Statistic

Welcome to the NSEuroNet database About...

cDNA	Protein	Classification	Count	Phenotype	ClinVar	Reference	Comment
[variation.nucleotide_code; block=tr]	[variation.protein_code]	[variation.classification]	[variation.cnt]	Show	[variation.clinvar_classification]	Show	Show

Gene Symbol (HGNC Symbol): BRAF

Gene Name: v-raf murine sarcoma viral oncogene homolog B1

Synonyms: BRAF1

Chromosomal Location: 7q34

Protein Name: Serine/threonine-protein kinase B-raf

Alternative Name: Proto-oncogene B-Raf, p94, v-Raf murine sarcoma viral oncogene homolog B1

FASTA Sequences: cDNA: NM_004333.4 protein: NP_004324.2

Isoforms: none

External databases:

- OMIM: 164757

- Ensembl:

Gene: ENSP00000288602

Transcript: ENST00000288602

- NCBI Entrez Gene: 673

- HGNC: 1097

- COSMIC: BRAF

- CCDS: CCDS5863.1

- Uniprot: P15056

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): CBL

Gene Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence

Synonyms: c-Cbl, "oncogene CBL2", RNF55

Chromosomal Location: 11q23.3-qter

Protein Name: E3 ubiquitin-protein ligase CBL

Alternative Name: Casitas B-lineage lymphoma proto-oncogene, Proto-oncogene c-Cbl, RING finger protein 55, Signal transduction protein CBL

FASTA Sequences: cDNA: NM_005188.2 protein: NP_005179.2

Isoforms: none

External databases:

- OMIM: 165360

- Ensembl:

Gene: ENSG00000110395

Transcript: ENST00000264033

- NCBI Entrez Gene: 867

- HGNC: 1541

- COSMIC: CBL

- CCDS: 8418.1

- Uniprot: P22681

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): HRAS

Gene Name: v-Ha-ras Harvey rat sarcoma viral oncogene homolog

Synonyms: None

Chromosomal Location: 11p15.5

Protein Name: GTPase HRas

Alternative Name: H-Ras-1, Ha-Ras, Transforming protein p21, c-H-ras, p21ras

FASTA Sequences: cDNA: NM_005343.2 protein: NP_005334.1

Isoforms: a and b (isoform a is used as reference sequence)

External databases:

- OMIM: 190020

- Ensembl:

Gene: ENSG00000174775

Transcript: ENST00000311189

- NCBI Entrez Gene: 3265

- HGNC: 5173

- COSMIC: HRAS

- CCDS: 7698.1

- Uniprot: P01112

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): KRAS

Gene Name: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog

Synonyms: KRAS1

Chromosomal Location: 12p12.1

Protein Name: GTPase KRas

Alternative Name: K-Ras 2, Ki-Ras, c-K-ras, c-Ki-ras

FASTA Sequences: cDNA: NM_004985.3 protein: NP_004976.2

Isoforms: a and b (isoform b is used as reference sequence)

External databases:

- OMIM: 190070

- Ensembl:

Gene: ENSG00000133703

Transcript: ENST00000311936

- NCBI Entrez Gene: 3845

- HGNC: 6407

- COSMIC: KRAS

- CCDS: 8702

- Uniprot: P01116

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): MAP2K1

Gene Name: mitogen-activated protein kinase kinase 1

Synonyms: MAPKK1, MEK1

Chromosomal Location: 15q22.1-q22.33

Protein Name: Dual specificity mitogen-activated protein kinase kinase 1

Alternative Name: ERK activator kinase 1, MAPK/ERK kinase 1

FASTA Sequences: cDNA: NM_002755.3 protein: NP_002746.1

Isoforms: none

External databases:

- OMIM: 176872

- Ensembl:

Gene: ENSG00000169032

Transcript: ENST00000307102

- NCBI Entrez Gene: 5604

- HGNC: 6840

- COSMIC: MAP2K1

- CCDS: 10216.1

- Uniprot: Q02750

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): MAP2K2

Gene Name: mitogen-activated protein kinase kinase 2

Synonyms: MEK2

Chromosomal Location: 19p13.3

Protein Name: Dual specificity mitogen-activated protein kinase kinase 2

Alternative Name: ERK activator kinase 2, MAPK/ERK kinase 2

FASTA Sequences: cDNA: NM_030662.3 protein: NP_109587.1

Isoforms: none

External databases:

- OMIM: 601263

- Ensembl:

Gene: ENSG00000126934

Transcript: ENST00000262948

- NCBI Entrez Gene: 5605

- HGNC: 6842

- COSMIC: MAP2K2

- CCDS: 12120.1

- Uniprot: P36507

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): NRAS

Gene Name: neuroblastoma RAS viral (v-ras) oncogene homolog

Synonyms: N-ras

Chromosomal Location: 1p13.2

Protein Name: GTPase NRas

Alternative Name: Transforming protein N-Ras

FASTA Sequences: cDNA: NM_002524.4 protein: NP_002515.1

Isoforms: none

External databases:

- OMIM: 164790

- Ensembl:

Gene: ENSG00000213281

Transcript: ENST00000369535

- NCBI Entrez Gene: 4893

- HGNC: 7989

- COSMIC: NRAS

- CCDS: 877.1

- Uniprot: P01111

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): PTPN11

Gene Name: protein tyrosine phosphatase, non-receptor type 11

Synonyms: BPTP3, PTP2C, SH-PTP2, SHP-2, SHP2

Chromosomal Location: 12q24.1

Protein Name: Tyrosine-protein phosphatase non-receptor type 11

Alternative Name: Protein-tyrosine phosphatase 1D, Protein-tyrosine phosphatase 2C, SH-PTP2, SH-PTP3

FASTA Sequences: cDNA: NM_002834.3 protein: NP_002825.3

Isoforms: none

External databases:

- OMIM: 176876

- Ensembl:

Gene: ENSG00000179295

Transcript: ENST00000351677

- NCBI Entrez Gene: 5781

- HGNC:

- COSMIC: PTPN11

- CCDS: 9163.1

- Uniprot: Q06124

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): RAF1

Gene Name: v-raf-1 murine leukemia viral oncogene homolog 1

Synonyms: c-Raf, CRAF, Raf-1

Chromosomal Location: 3p25

Protein Name: RAF proto-oncogene serine/threonine-protein kinase

Alternative Name: Proto-oncogene c-RAF, Raf-1

FASTA Sequences: cDNA: NM_002880.3 protein: NP_002871.1

Isoforms: none

External databases:

- OMIM: 164760

- Ensembl:

Gene: ENSG00000132155

Transcript: ENST00000251849

- NCBI Entrez Gene: 5894

- HGNC: 9829

- COSMIC: RAF1

- CCDS: 2612.1

- Uniprot: P04049

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): SHOC2

Gene Name: soc-2 suppressor of clear homolog (C. elegans)

Synonyms: KIAA0862, SOC-2, SOC2, SUR-8, SUR8

Chromosomal Location: 10q25

Protein Name: Leucine-rich repeat protein SHOC-2

Alternative Name: Protein soc-2 homolog, Protein sur-8 homolog

FASTA Sequences: cDNA: NM_007373.3 protein: NP_031399.2

Isoforms: none

External databases:

- OMIM: 602775

- Ensembl:

Gene: ENSG00000108061

Transcript: ENST00000251849

- NCBI Entrez Gene: 8036

- HGNC: 15454

- COSMIC: SHOC2

- CCDS: 7568.1

- Uniprot: Q9UQ13

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): SOS1

Gene Name: son of sevenless homolog 1 (Drosophila)

Synonyms: GF1, HGF

Chromosomal Location: 2p21

Protein Name: Son of sevenless homolog 1

Alternative Name: none

FASTA Sequences: cDNA: NM_005633.3 protein: NP_005624.2

Isoforms: none

External databases:

- OMIM: 182530

- Ensembl:

Gene: ENSG00000115904

Transcript: ENST00000426016

- NCBI Entrez Gene: 6654

- HGNC: 11187

- COSMIC: SOS1

- CCDS: 1802.1

- Uniprot: Q07889

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): RIT1

Gene Name: Ras-like without CAAX 1

Synonyms: GTP-binding protein Roc1, MGC125864, MGC125865, RIBB, Ric-like, expressed in many tissues, ROC1

Chromosomal Location: 1q21.2

Protein Name: GTP-binding protein Rit1

Alternative Name: Ras-like protein expressed in many tissues, Ras-like without CAAX protein 1

FASTA Sequences: cDNA: NM_006912.5 protein: NP_008843.1

Isoforms: 1, 2 and 3 (2 is used as reference sequence)

External databases:

- OMIM: 609591

- Ensembl:

Gene: ENSG00000143622

Transcript: ENST00000368323

- NCBI Entrez Gene: 6016

- HGNC: 10023

- COSMIC: RIT1

- CCDS: 1123.1

- Uniprot: Q92963

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): RRAS

Gene Name: Related RAS viral (r-ras) oncogene homolog

Synonyms: Oncogene RRAS

Chromosomal Location: 19q13.33

Protein Name: Ras-related protein R-Ras precursor

FASTA Sequences: cDNA: NM_006270.3 protein: NP_006261.1

Isoforms: none

External databases:

- OMIM: 165090

- Ensembl:

Gene: ENSG00000126458.3

Transcript: ENST00000246792

- NCBI Entrez Gene: 6237

- HGNC: 10447

- COSMIC: RRAS

- CCDS: 12774.1

- Uniprot: P10301

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): SOS2

Gene Name: son of sevenless homolog 2 (Drosophila)

Synonyms: -

Chromosomal Location: 14q21

Protein Name: Son of sevenless homolog 2

FASTA Sequences: cDNA: NM_006939.2 protein: NP_008870.2

Isoforms: none

External databases:

- OMIM: 601247

- Ensembl:

Gene: ENSG00000100485

Transcript: ENST00000216373

- NCBI Entrez Gene: 6655

- HGNC: 11188

- COSMIC: SOS2

- CCDS: 9697

- Uniprot: Q07890

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): RASA2

Gene Name: RAS p21 protein activator 2

Synonyms: GAP1M

Chromosomal Location: 3q22-q23

Protein Name: Ras GTPase-activating protein 2

FASTA Sequences: cDNA: NM_001303246.1 protein: NP_001290175.1

Isoforms: Isoform 1

External databases:

- OMIM: 601589

- Ensembl:

Gene: ENSG00000155903

Transcript: ENST00000286364

- NCBI Entrez Gene: 5922

- HGNC: 9872

- COSMIC: RASA2

- CCDS: 3117

- Uniprot: Q15283

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): LZTR1

Gene Name: leucine-zipper-like transcription regulator 1

Synonyms: BTBD29, LZTR-1

Chromosomal Location: 22q11.21

Protein Name: Leucine-zipper-like transcriptional regulator 1

FASTA Sequences: cDNA: NM_006767.3 protein: NP_006758.2

Isoforms: none

External databases:

- OMIM: 600574

- Ensembl:

Gene: ENSG00000099949

Transcript: ENST00000215739

- NCBI Entrez Gene: 8216

- HGNC: 6742

- COSMIC: LZTR1

- CCDS: 33606.1

- Uniprot: Q8N653

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): PPP1CB

Gene Name: protein phosphatase 1 catalytic subunit beta

Synonyms: PP-1B, PP1B, PP1beta

Chromosomal Location: 2p23.2

Protein Name: Serine/threonine-protein phosphatase PP1-beta catalytic subunit

FASTA Sequences: cDNA: NM_002709.2 protein: NP_002700.1

Isoforms: 1 and 2 (isoform 1 is used as reference sequence)

External databases:

- OMIM: 600590

- Ensembl:

Gene: ENSG00000213639

Transcript: ENST00000395366.2

- NCBI Entrez Gene: 5500

- HGNC: 9282

- COSMIC: PPP1CB

- CCDS: 33169.1

- Uniprot: P62140

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): MRAS

Gene Name: muscle RAS oncogene homolog

Synonyms: M-RAs, R-RAS3, RRAS3

Chromosomal Location: 3q22.3

Protein Name: Ras-related protein M-Ras

FASTA Sequences: cDNA: NM_001085049.2 protein: NP_001078518.1

Isoforms: 1 and 2 (isoform 1 variant 2 is used as reference sequence, variants 1, 2, and 3 encode the same isoform)

External databases:

- OMIM: 608435

- Ensembl:

Gene: ENSG00000158186

Transcript: ENST00000423968.6

- NCBI Entrez Gene: 22808

- HGNC: 7227

- COSMIC: MRAS

- CCDS: 3100.1

- Uniprot: O14807

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene Symbol (HGNC Symbol): RRAS2

Gene Name: RAS related 2

Synonyms: -

Chromosomal Location: 11p15.2

Protein Name: related RAS viral (r-ras) oncogene homolog 2

FASTA Sequences: cDNA: NM_012250.6 protein: NP_036382.2

Isoforms: Isoform a

External databases:

- OMIM: 600098

- Ensembl:

Gene: ENSG00000133818

Transcript: ENST00000256196.9

- NCBI Entrez Gene: 22800

- HGNC: 17271

- COSMIC: RRAS2

- CCDS: 7814.1

- Uniprot: P62070

Statistic:

- Total number of disease-causing mutations for this gene: 0

- Total number of entries in database: 0

Gene:

Phenotype:

Amino Acid Position from to

Legal Information | Impressum | Disclaimer | Haftungsausschluss