MAPK3
mitogen-activated protein kinase 3
Summary
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765303927 | 16:30,127,996 | G/T | — | uncertain significance |
| rs756047833 | 16:30,128,021 | G/A | — | uncertain significance |
| rs41291696 | 16:30,128,167 | C/T | — | benign |
| rs527481960 | 16:30,128,222 | G/A | — | uncertain significance |
| rs1143695 | 16:30,128,224 | C/T | — | likely benign |
| rs202207118 | 16:30,128,241 | C/G | — | uncertain significance |
| rs55859133 | 16:30,128,265 | C/T | — | likely benign |
| rs2072962836 | 16:30,128,274 | T/C | — | uncertain significance |
| rs1172563462 | 16:30,128,322 | G/A | — | uncertain significance |
| rs61764216 | 16:30,129,103 | G/A | — | likely benign |
| rs139957276 | 16:30,129,377 | C/A | — | likely benign |
| rs142560490 | 16:30,129,736 | G/A | — | likely benign |
| rs2543707077 | 16:30,129,770 | T/C | — | likely pathogenic |
| rs1596880352 | 16:30,129,796 | G/A | — | likely benign |
| rs78564187 | 16:30,131,777 | G/A | intron variant | — |
| rs151100121 | 16:30,133,171 | C/T | — | likely benign |
| rs778826879 | 16:30,133,269 | C/G | — | uncertain significance |
| rs374387900 | 16:30,133,335 | G/A | — | likely benign |
| rs889768664 | 16:30,134,367 | A/G | — | uncertain significance |
| rs1197559363 | 16:30,134,405 | G/T | — | uncertain significance |
| rs1394035337 | 16:30,134,419 | C/A | — | uncertain significance |
| rs2543714902 | 16:30,134,462 | C/T | — | likely benign |
| rs766922585 | 16:30,134,488 | G/A | — | likely benign |
| rs1368575816 | 16:30,134,498 | G/C | — | likely benign |
| rs28529403 | 16:30,134,656 | T/A | — | — |
| rs61764202 | 16:30,134,679 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.