RAC1
Rac family small GTPase 1
Summary
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs33999234 | 7:6,412,387 | A/T | — | — |
| rs4397303 | 7:6,413,023 | C/A | regulatory region variant | — |
| rs1322357597 | 7:6,414,378 | C/G | — | uncertain significance |
| rs2115177206 | 7:6,414,403 | T/G | — | uncertain significance |
| rs1238437586 | 7:6,414,416 | G/A | — | likely benign |
| rs836494 | 7:6,415,934 | G/T | — | — |
| rs836489 | 7:6,418,673 | T/G | intron variant | — |
| rs836488 | 7:6,419,793 | C/T | intron variant | — |
| rs702482 | 7:6,420,199 | T/G | — | — |
| rs10951982 | 7:6,422,556 | G/A | regulatory region variant | — |
| rs35589149 | 7:6,426,273 | G/C | intron variant | — |
| rs2115193022 | 7:6,426,847 | G/A | — | uncertain significance |
| rs1782948454 | 7:6,426,857 | C/G | — | uncertain significance |
| rs1554263326 | 7:6,426,860 | G/A | — | pathogenic |
| rs761870622 | 7:6,426,876 | C/T | — | likely benign |
| rs2115193140 | 7:6,426,880 | A/T | — | uncertain significance |
| rs139010955 | 7:6,426,882 | C/G | — | benign |
| rs1782949423 | 7:6,426,884 | A/G | — | conflicting classifications of pathogenicity |
| rs1357653249 | 7:6,426,888 | A/G | — | likely benign |
| rs1057519874 | 7:6,426,892 | C/T | missense variant | — |
| rs1057519948 | 7:6,426,893 | C/A | missense variant | uncertain significance |
| rs2534020732 | 7:6,426,899 | A/T | — | uncertain significance |
| rs702483 | 7:6,426,941 | C/G | — | benign |
| rs1554263624 | 7:6,431,563 | A/G | — | pathogenic |
| rs964265383 | 7:6,431,576 | T/A | — | likely pathogenic |
| rs2534029494 | 7:6,431,587 | A/G | — | uncertain significance |
| rs1554263625 | 7:6,431,598 | G/A | — | pathogenic |
| rs2115201346 | 7:6,431,614 | G/T | — | uncertain significance |
| rs1783105049 | 7:6,431,615 | G/C | — | likely pathogenic |
| rs2534029543 | 7:6,431,617 | A/C | — | uncertain significance |
| rs2534029561 | 7:6,431,628 | C/G | — | pathogenic |
| rs2534029571 | 7:6,431,631 | G/A | — | pathogenic |
| rs1554263626 | 7:6,431,637 | T/G | — | pathogenic |
| rs2115201389 | 7:6,431,638 | A/G | — | likely pathogenic |
| rs1783105291 | 7:6,431,645 | A/T | — | conflicting classifications of pathogenicity |
| rs2115201406 | 7:6,431,649 | C/A | — | pathogenic |
| rs2115201430 | 7:6,431,659 | C/T | — | pathogenic |
| rs2115201441 | 7:6,431,665 | C/T | — | pathogenic |
| rs836478 | 7:6,431,690 | C/T | intron variant | benign |
| rs836468 | 7:6,436,722 | T/A | intron variant | — |
| rs1783314244 | 7:6,438,292 | G/C | — | likely benign |
| rs2115211942 | 7:6,438,318 | T/C | — | uncertain significance |
| rs148122613 | 7:6,438,343 | G/A | — | likely benign |
| rs1783356253 | 7:6,439,811 | C/T | — | uncertain significance |
| rs2115214243 | 7:6,439,815 | C/T | — | likely benign |
| rs6954996 | 7:6,441,258 | G/T | — | — |
| rs2115217260 | 7:6,441,498 | G/T | — | uncertain significance |
| rs1227283234 | 7:6,441,582 | C/G | — | uncertain significance |
| rs2534047485 | 7:6,441,604 | A/G | — | likely pathogenic |
| rs770760146 | 7:6,441,619 | A/G | — | uncertain significance |
| rs11540456 | 7:6,441,630 | G/A | — | likely benign |
| rs1554264268 | 7:6,441,968 | G/A | — | likely pathogenic |
| rs143737695 | 7:6,441,972 | G/A | — | benign |
| rs2115218399 | 7:6,441,973 | G/A | — | pathogenic |
| rs2534048828 | 7:6,441,976 | C/G | — | uncertain significance |
| rs2115218459 | 7:6,441,985 | C/T | — | uncertain significance |
| rs2115218501 | 7:6,441,991 | C/G | — | likely pathogenic |
| rs61753123 | 7:6,441,993 | C/G | — | likely benign |
| rs1176320808 | 7:6,442,004 | T/G | — | uncertain significance |
| rs2303365 | 7:6,442,008 | C/T | — | likely benign |
| rs140589960 | 7:6,442,014 | G/A | — | likely benign |
| rs1305062442 | 7:6,442,034 | C/T | — | uncertain significance |
| rs1416607213 | 7:6,442,087 | C/G | — | uncertain significance |
| rs9374 | 7:6,442,371 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.