PAK2
p21 (RAC1) activated kinase 2
Summary
The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11718173 | 3:196,478,378 | C/A | — | — |
| rs13434265 | 3:196,489,422 | C/T | — | — |
| rs7630852 | 3:196,508,551 | T/A | downstream gene variant | — |
| rs2474322105 | 3:196,509,581 | A/G | — | uncertain significance |
| rs10440165 | 3:196,511,870 | C/T | coding sequence variant | — |
| rs9829114 | 3:196,518,623 | G/T | — | — |
| rs78043821 | 3:196,529,982 | A/C | — | uncertain significance |
| rs73205842 | 3:196,530,013 | A/G | — | likely benign |
| rs532313525 | 3:196,533,109 | A/G | — | — |
| rs565026135 | 3:196,533,500 | T/G | — | uncertain significance |
| rs777079011 | 3:196,533,514 | C/T | — | uncertain significance |
| rs2473981040 | 3:196,533,538 | G/T | — | uncertain significance |
| rs1715637366 | 3:196,534,773 | A/G | — | uncertain significance |
| rs757747754 | 3:196,537,469 | G/A | — | uncertain significance |
| rs767122683 | 3:196,539,110 | C/T | — | uncertain significance |
| rs746576403 | 3:196,539,723 | G/T | — | uncertain significance |
| rs769558175 | 3:196,541,329 | G/T | — | uncertain significance |
| rs2473993364 | 3:196,541,372 | G/T | — | uncertain significance |
| rs2108772943 | 3:196,547,293 | C/T | — | uncertain significance |
| rs2474001096 | 3:196,547,357 | A/T | — | uncertain significance |
| rs2474001104 | 3:196,547,361 | G/A | — | likely pathogenic |
| rs527259899 | 3:196,547,366 | A/G | — | uncertain significance |
| rs2108773003 | 3:196,547,391 | G/A | — | pathogenic |
| rs2084385 | 3:196,553,867 | A/T | — | — |
| rs761446581 | 3:196,554,167 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.