RHOA
ras homolog family member A
Summary
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3811699 | 3:49,396,360 | T/C | regulatory region variant | — |
| rs3448 | 3:49,396,751 | T/C | regulatory region variant | — |
| rs8179164 | 3:49,397,284 | T/A | regulatory region variant | — |
| rs2471002049 | 3:49,397,721 | C/T | — | uncertain significance |
| rs765701865 | 3:49,397,810 | C/T | — | likely benign |
| rs1987628 | 3:49,399,259 | G/A | upstream gene variant | — |
| rs6446262 | 3:49,401,153 | T/C | downstream gene variant | — |
| rs9812360 | 3:49,402,351 | T/C | downstream gene variant | — |
| rs1575647025 | 3:49,405,927 | G/A | — | pathogenic |
| rs1333410252 | 3:49,405,930 | T/C | — | likely pathogenic |
| rs2107838665 | 3:49,405,935 | C/T | — | uncertain significance |
| rs1553631976 | 3:49,405,942 | A/G | — | uncertain significance |
| rs1575647051 | 3:49,405,957 | C/T | — | uncertain significance |
| rs148734725 | 3:49,406,708 | G/A | upstream gene variant | — |
| rs1575653629 | 3:49,412,884 | C/T | — | pathogenic |
| rs1057519954 | 3:49,412,898 | T/C | missense variant | — |
| rs1057519951 | 3:49,412,905 | C/T | missense variant | — |
| rs11552761 | 3:49,412,973 | C/A | — | pathogenic |
| rs148761736 | 3:49,412,996 | C/T | — | benign |
| rs1057519953 | 3:49,413,009 | C/T | missense variant | — |
| rs1057519952 | 3:49,413,010 | G/C | missense variant | uncertain significance |
| rs7623659 | 3:49,414,791 | C/T | intron variant | — |
| rs9854297 | 3:49,417,896 | A/C | — | — |
| rs62259944 | 3:49,430,883 | G/T | — | — |
| rs7650253 | 3:49,431,160 | T/C | — | — |
| rs73088122 | 3:49,432,404 | C/T | intron variant | — |
| rs2177268 | 3:49,439,725 | A/T | intron variant | — |
| rs6446268 | 3:49,445,695 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.