MAP2K1
mitogen-activated protein kinase kinase 1
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]
Known Variants469 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111584879 | 15:66,678,173 | T/G | — | — |
| rs11071888 | 15:66,678,919 | A/C | — | benign |
| rs11631295 | 15:66,678,991 | A/T | — | benign |
| rs62013660 | 15:66,679,055 | C/T | — | benign |
| rs548685462 | 15:66,679,068 | G/A | — | benign |
| rs2093340944 | 15:66,679,113 | C/T | — | uncertain significance |
| rs77540803 | 15:66,679,139 | C/T | — | likely benign |
| rs73469977 | 15:66,679,238 | C/T | — | likely benign |
| rs112542693 | 15:66,679,601 | G/C | — | benign |
| rs571248158 | 15:66,679,643 | C/T | — | likely benign |
| rs77796976 | 15:66,679,684 | G/A | — | benign |
| rs2140511591 | 15:66,679,690 | C/G | — | uncertain significance |
| rs377720622 | 15:66,679,691 | C/T | — | likely benign |
| rs1208310528 | 15:66,679,694 | G/A | — | likely benign |
| rs761150136 | 15:66,679,696 | A/G | — | uncertain significance |
| rs1489477346 | 15:66,679,697 | G/A | — | likely benign |
| rs2140511623 | 15:66,679,700 | G/T | — | uncertain significance |
| rs2093343985 | 15:66,679,714 | A/T | — | uncertain significance |
| rs2140511655 | 15:66,679,716 | C/G | — | uncertain significance |
| rs1421879667 | 15:66,679,718 | G/A | — | likely benign |
| rs2140511663 | 15:66,679,721 | C/T | — | likely benign |
| rs2545000729 | 15:66,679,722 | C/T | — | uncertain significance |
| rs876657503 | 15:66,679,724 | G/A | — | likely benign |
| rs2093344028 | 15:66,679,726 | C/T | — | uncertain significance |
| rs2140511693 | 15:66,679,727 | C/G | — | uncertain significance |
| rs916502006 | 15:66,679,728 | C/T | — | uncertain significance |
| rs1487811003 | 15:66,679,730 | C/T | — | likely benign |
| rs1330053912 | 15:66,679,733 | C/A | — | uncertain significance |
| rs1349988835 | 15:66,679,738 | C/G | — | uncertain significance |
| rs727504413 | 15:66,679,741 | C/G | — | uncertain significance |
| rs567535653 | 15:66,679,748 | C/T | — | likely benign |
| rs140749690 | 15:66,679,754 | C/T | — | likely benign |
| rs2093344167 | 15:66,679,755 | A/G | — | uncertain significance |
| rs1290055913 | 15:66,679,756 | G/C | — | uncertain significance |
| rs1228037386 | 15:66,679,761 | G/A | — | uncertain significance |
| rs1290811972 | 15:66,679,762 | C/T | — | uncertain significance |
| rs2140511778 | 15:66,679,767 | T/C | — | uncertain significance |
| rs2545000891 | 15:66,679,771 | T/C | — | uncertain significance |
| rs1219385230 | 15:66,679,774 | G/A | — | likely benign |
| rs1057522314 | 15:66,679,779 | G/A | — | likely benign |
| rs2093344275 | 15:66,679,781 | G/C | — | likely benign |
| rs374238278 | 15:66,679,793 | G/C | — | benign |
| rs56149436 | 15:66,679,798 | C/G | — | benign |
| rs4483802 | 15:66,679,819 | G/C | — | benign |
| rs529292373 | 15:66,684,225 | A/G | — | — |
| rs2053005 | 15:66,704,449 | G/A | downstream gene variant | — |
| rs7168238 | 15:66,709,386 | C/T | — | — |
| rs11635184 | 15:66,714,743 | A/G | intron variant | — |
| rs112747606 | 15:66,716,106 | C/T | intron variant | — |
| rs76906202 | 15:66,721,855 | A/G | intron variant | — |
| rs373883835 | 15:66,727,345 | T/G | — | likely benign |
| rs750797427 | 15:66,727,352 | C/T | — | likely benign |
| rs758667573 | 15:66,727,353 | A/G | — | likely benign |
| rs2140578284 | 15:66,727,358 | G/C | — | likely benign |
| rs2140578322 | 15:66,727,365 | G/A | — | uncertain significance |
| rs1277076291 | 15:66,727,370 | A/G | — | uncertain significance |
| rs755038798 | 15:66,727,371 | C/T | — | likely benign |
| rs1203670813 | 15:66,727,379 | C/T | — | uncertain significance |
| rs781144142 | 15:66,727,380 | C/T | — | likely benign |
| rs2140578458 | 15:66,727,383 | G/A | — | likely benign |
| rs1269147448 | 15:66,727,392 | G/A | — | likely benign |
| rs397516789 | 15:66,727,408 | C/T | missense variant | pathogenic |
| rs1358265797 | 15:66,727,409 | T/G | — | uncertain significance |
| rs2093484116 | 15:66,727,419 | G/T | — | uncertain significance |
| rs1595860875 | 15:66,727,421 | A/T | — | likely pathogenic |
| rs1049040928 | 15:66,727,423 | C/T | — | uncertain significance |
| rs1567009054 | 15:66,727,424 | G/A | — | uncertain significance |
| rs910099707 | 15:66,727,430 | G/A | — | uncertain significance |
| rs756073029 | 15:66,727,431 | C/A | — | likely benign |
| rs2140578834 | 15:66,727,433 | T/C | — | conflicting classifications of pathogenicity |
| rs1567009061 | 15:66,727,437 | G/A | — | likely benign |
| rs2140578863 | 15:66,727,438 | G/A | — | uncertain significance |
| rs147489724 | 15:66,727,440 | C/T | — | likely benign |
| rs1057519728 | 15:66,727,441 | T/C | missense variant | uncertain significance |
| rs121908594 | 15:66,727,442 | T/C | missense variant | pathogenic |
| rs1057519908 | 15:66,727,443 | T/A | missense variant | uncertain significance |
| rs2140578916 | 15:66,727,445 | T/C | — | pathogenic |
| rs1057519729 | 15:66,727,451 | A/C | missense variant | pathogenic |
| rs397516790 | 15:66,727,453 | A/G | missense variant | pathogenic |
| rs1057519909 | 15:66,727,454 | A/C | missense variant | pathogenic |
| rs869025608 | 15:66,727,455 | G/C | missense variant | pathogenic |
| rs2140579011 | 15:66,727,457 | A/G | — | uncertain significance |
| rs2093484335 | 15:66,727,458 | G/T | — | uncertain significance |
| rs773928828 | 15:66,727,461 | G/A | — | likely benign |
| rs730880501 | 15:66,727,463 | T/G | — | uncertain significance |
| rs2093484385 | 15:66,727,471 | C/T | — | likely benign |
| rs56200325 | 15:66,727,482 | C/T | — | conflicting classifications of pathogenicity |
| rs727504317 | 15:66,727,483 | G/A | missense variant | pathogenic |
| rs2093484413 | 15:66,727,489 | G/A | — | uncertain significance |
| rs2140579455 | 15:66,727,496 | T/C | — | uncertain significance |
| rs547530008 | 15:66,727,499 | G/A | — | uncertain significance |
| rs1326124619 | 15:66,727,518 | T/C | — | likely benign |
| rs148656020 | 15:66,727,521 | C/T | — | likely benign |
| rs2140579691 | 15:66,727,522 | G/A | — | uncertain significance |
| rs2140579699 | 15:66,727,523 | G/A | — | uncertain significance |
| rs1261366694 | 15:66,727,531 | T/C | — | uncertain significance |
| rs774932586 | 15:66,727,535 | A/G | — | uncertain significance |
| rs1052147663 | 15:66,727,539 | C/T | — | likely benign |
| rs2545051300 | 15:66,727,540 | T/A | — | uncertain significance |
| rs762354445 | 15:66,727,547 | A/G | — | uncertain significance |
Showing 100 of 469 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.