PAK4
p21 (RAC1) activated kinase 4
Summary
PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80265623 | 19:39,617,966 | G/T | regulatory region variant | — |
| rs1458237744 | 19:39,660,207 | G/C | — | uncertain significance |
| rs753086242 | 19:39,660,230 | G/T | — | uncertain significance |
| rs146498509 | 19:39,660,231 | C/T | — | uncertain significance |
| rs146583353 | 19:39,660,254 | G/A | — | uncertain significance |
| rs751962517 | 19:39,660,291 | C/T | — | uncertain significance |
| rs1403145731 | 19:39,663,580 | G/A | — | uncertain significance |
| rs751378523 | 19:39,663,615 | G/A | — | uncertain significance |
| rs760958606 | 19:39,663,673 | C/T | — | uncertain significance |
| rs2513667156 | 19:39,663,679 | C/A | — | uncertain significance |
| rs763084575 | 19:39,663,682 | G/A | — | uncertain significance |
| rs374813703 | 19:39,663,715 | C/T | — | uncertain significance |
| rs1444151090 | 19:39,663,727 | C/A | — | uncertain significance |
| rs199622580 | 19:39,663,792 | G/A | — | likely benign |
| rs1172447216 | 19:39,663,830 | G/T | — | uncertain significance |
| rs370979504 | 19:39,663,960 | C/T | — | uncertain significance |
| rs538174548 | 19:39,664,006 | G/A | — | uncertain significance |
| rs751160538 | 19:39,664,012 | C/T | — | uncertain significance |
| rs138516359 | 19:39,664,221 | G/C | — | uncertain significance |
| rs2513673130 | 19:39,664,235 | C/T | — | uncertain significance |
| rs1456937800 | 19:39,664,240 | A/G | — | uncertain significance |
| rs2513673279 | 19:39,664,247 | C/T | — | uncertain significance |
| rs768517050 | 19:39,664,261 | C/G | — | uncertain significance |
| rs771728038 | 19:39,664,283 | C/T | — | uncertain significance |
| rs765800551 | 19:39,664,292 | C/T | — | uncertain significance |
| rs912960566 | 19:39,664,370 | C/A | — | uncertain significance |
| rs375957288 | 19:39,664,420 | C/T | — | uncertain significance |
| rs746614959 | 19:39,664,421 | G/A | — | uncertain significance |
| rs774915460 | 19:39,664,445 | G/A | — | uncertain significance |
| rs147291859 | 19:39,664,505 | G/A | — | uncertain significance |
| rs149267288 | 19:39,664,580 | C/T | — | uncertain significance |
| rs2513685865 | 19:39,665,667 | G/C | — | uncertain significance |
| rs146517848 | 19:39,665,689 | T/C | — | not provided |
| rs374443098 | 19:39,665,997 | G/C | — | uncertain significance |
| rs2074583533 | 19:39,666,019 | C/G | — | uncertain significance |
| rs11559034 | 19:39,667,293 | C/T | — | likely benign |
| rs193920877 | 19:39,668,333 | G/C | — | uncertain significance |
| rs141267072 | 19:39,668,360 | G/A | — | uncertain significance |
| rs751964232 | 19:39,668,403 | A/G | — | uncertain significance |
| rs56084716 | 19:39,669,106 | C/G | — | likely benign |
| rs149210444 | 19:39,669,160 | G/T | — | benign |
| rs762977178 | 19:39,669,173 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.