| Variant ID | 1429 |
|---|---|
| Entrez Gene ID | 5604 |
| Gene | MAP2K1 (GeneCards) |
| Location | hg19 15:66727457-66727471
hg38 15:66435119-66435133 |
| Disease | Arteriovenous Malformation (view all the variants in this disease) |
| Method | Illumina platforms? |
| Mutation(HGVS format) | NC_000015.9:g.66727457_66727471 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 58 |
| Amino acid changes in protein | O > E |
| Position in cDNA | 173_187 |
| Changes in cDNA | del > NA |
| mRNA accession | NM_002755.3 |
| mRNA length | 2603 |
| Reference length | 102531392 |
| Deleterious probability by DeFine | 0.9542 (Deleterious) |
|---|
| Entrez Gene ID | 5604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP2K1 (GeneCards) |
| Number of variants in MAP2K1 in this database | 24 (view all the variants) |
| Full name | mitogen-activated protein kinase kinase 1 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133196 OMIM: 176872 HGNC: HGNC:6840 Ensembl: ENSG00000169032 |
| Other names | CFC3, MEK1, MKK1, MAPKK1, PRKMK1 |
| Summary | The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] |
| Individual ID | 28190454.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28190454 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Arteriovenous Malformation (view all the variants in this disease) |
| OMIM ID | 108010 |
| Pubmed ID | 28190454 |
|---|---|
| Title | Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.03 |
| Disease | Arteriovenous Malformation |
| Number of cases | Male cases: 11; Female cases: 5; |