PAK1
p21 (RAC1) activated kinase 1
Summary
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1938815436 | 11:77,034,376 | G/A | — | uncertain significance |
| rs2135934906 | 11:77,034,378 | G/A | — | uncertain significance |
| rs114048423 | 11:77,034,400 | T/C | — | uncertain significance |
| rs1225760044 | 11:77,036,412 | G/T | — | uncertain significance |
| rs377325525 | 11:77,036,415 | T/A | — | uncertain significance |
| rs142600861 | 11:77,043,790 | A/G | — | likely benign |
| rs757020946 | 11:77,043,843 | G/C | — | uncertain significance |
| rs1591695781 | 11:77,043,899 | A/G | — | pathogenic |
| rs2539862950 | 11:77,043,900 | T/C | — | likely pathogenic |
| rs2136123010 | 11:77,043,906 | A/G | — | likely pathogenic |
| rs1942648391 | 11:77,047,135 | A/C | — | likely pathogenic |
| rs2539943040 | 11:77,047,160 | G/A | — | uncertain significance |
| rs2539943608 | 11:77,047,184 | C/T | — | uncertain significance |
| rs1565583382 | 11:77,047,258 | T/C | — | likely pathogenic |
| rs142211771 | 11:77,047,260 | T/A | — | likely benign |
| rs972319037 | 11:77,047,283 | G/A | — | likely pathogenic |
| rs1942667410 | 11:77,047,319 | C/T | — | uncertain significance |
| rs1253650211 | 11:77,048,396 | A/G | — | likely benign |
| rs113975614 | 11:77,048,471 | A/G | — | uncertain significance |
| rs2725832 | 11:77,051,683 | G/C | — | benign |
| rs1483962098 | 11:77,051,696 | G/A | — | likely pathogenic |
| rs2136238391 | 11:77,051,791 | T/C | — | uncertain significance |
| rs114957769 | 11:77,051,802 | G/A | — | likely benign |
| rs51500 | 11:77,051,820 | C/T | — | benign |
| rs2540106628 | 11:77,054,893 | C/A | — | uncertain significance |
| rs1036041813 | 11:77,054,896 | G/T | — | uncertain significance |
| rs906897096 | 11:77,054,903 | C/G | — | uncertain significance |
| rs1944009387 | 11:77,054,921 | T/C | — | uncertain significance |
| rs2540107719 | 11:77,054,927 | A/C | — | likely pathogenic |
| rs2540331258 | 11:77,064,597 | C/G | — | uncertain significance |
| rs767363828 | 11:77,064,603 | G/A | — | uncertain significance |
| rs1945580237 | 11:77,064,607 | A/G | — | likely benign |
| rs2540331868 | 11:77,064,627 | C/A | — | uncertain significance |
| rs201726311 | 11:77,066,713 | G/A | — | uncertain significance |
| rs2540377215 | 11:77,066,753 | C/A | — | uncertain significance |
| rs2136512216 | 11:77,066,761 | G/C | — | likely benign |
| rs199910150 | 11:77,066,762 | C/T | — | likely benign |
| rs1285749665 | 11:77,066,777 | G/A | — | likely benign |
| rs1945948126 | 11:77,066,802 | T/G | — | uncertain significance |
| rs1945948908 | 11:77,066,804 | A/T | — | uncertain significance |
| rs1346690686 | 11:77,066,827 | A/G | — | uncertain significance |
| rs887262054 | 11:77,066,842 | G/A | — | uncertain significance |
| rs2540381218 | 11:77,066,872 | C/T | — | uncertain significance |
| rs768350096 | 11:77,069,983 | G/A | — | likely benign |
| rs777870573 | 11:77,070,038 | G/A | — | uncertain significance |
| rs2540433382 | 11:77,070,045 | A/C | — | likely benign |
| rs781205906 | 11:77,070,065 | G/T | — | uncertain significance |
| rs1949512290 | 11:77,090,297 | A/T | — | likely pathogenic |
| rs2540813559 | 11:77,090,298 | T/C | — | likely pathogenic |
| rs2137081192 | 11:77,090,301 | A/G | — | likely pathogenic |
| rs1196615739 | 11:77,090,327 | G/A | — | uncertain significance |
| rs2137081530 | 11:77,090,328 | A/G | — | likely pathogenic |
| rs1565638316 | 11:77,090,333 | T/C | — | likely pathogenic |
| rs2137081759 | 11:77,090,334 | A/T | — | pathogenic |
| rs2137081902 | 11:77,090,346 | C/T | — | conflicting classifications of pathogenicity |
| rs2540814506 | 11:77,090,357 | G/A | — | uncertain significance |
| rs1949519149 | 11:77,090,363 | G/A | — | pathogenic |
| rs2137082293 | 11:77,090,364 | G/A | — | pathogenic |
| rs115947709 | 11:77,090,368 | T/C | — | benign |
| rs367836292 | 11:77,090,380 | C/T | — | benign |
| rs2137082609 | 11:77,090,397 | A/T | — | likely pathogenic |
| rs937721392 | 11:77,090,411 | C/T | — | uncertain significance |
| rs769079461 | 11:77,090,412 | G/A | — | likely pathogenic |
| rs1130059 | 11:77,090,939 | C/T | — | benign |
| rs2540830069 | 11:77,090,968 | C/T | — | likely pathogenic |
| rs1949601904 | 11:77,090,971 | C/A | — | uncertain significance |
| rs2540830299 | 11:77,090,979 | G/C | — | likely pathogenic |
| rs376046807 | 11:77,103,373 | T/C | — | likely benign |
| rs2137435801 | 11:77,103,408 | C/T | — | uncertain significance |
| rs996658283 | 11:77,103,487 | C/T | — | uncertain significance |
| rs1270608708 | 11:77,103,495 | A/T | — | uncertain significance |
| rs1951258020 | 11:77,103,523 | G/A | — | uncertain significance |
| rs775839991 | 11:77,103,530 | G/C | — | likely benign |
| rs556411558 | 11:77,105,760 | C/T | — | — |
| rs2602461 | 11:77,116,308 | G/A | intron variant | — |
| rs527589 | 11:77,154,639 | C/T | intron variant | — |
| rs72941701 | 11:77,171,217 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.