RASA3
RAS p21 protein activator 3
Summary
This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12428831 | 13:114,746,933 | G/A | downstream gene variant | — |
| rs549154375 | 13:114,748,786 | T/C | — | uncertain significance |
| rs1472955961 | 13:114,748,800 | G/T | — | uncertain significance |
| rs148918325 | 13:114,748,820 | C/T | — | uncertain significance |
| rs35250168 | 13:114,748,824 | G/A | — | benign |
| rs76140469 | 13:114,749,713 | T/A | intron variant | — |
| rs777437516 | 13:114,751,132 | C/T | — | uncertain significance |
| rs770485108 | 13:114,751,162 | C/T | — | uncertain significance |
| rs2501868082 | 13:114,751,187 | G/A | — | likely benign |
| rs2501868900 | 13:114,751,213 | A/C | — | uncertain significance |
| rs377536300 | 13:114,751,221 | T/C | — | uncertain significance |
| rs542675670 | 13:114,753,735 | C/T | — | — |
| rs149014710 | 13:114,756,556 | C/T | regulatory region variant | — |
| rs779679620 | 13:114,757,985 | T/C | — | uncertain significance |
| rs781019788 | 13:114,758,000 | G/A | — | uncertain significance |
| rs775867122 | 13:114,758,039 | C/T | — | uncertain significance |
| rs763872615 | 13:114,762,103 | C/T | — | uncertain significance |
| rs2502054611 | 13:114,762,136 | A/G | — | uncertain significance |
| rs2502054833 | 13:114,762,144 | C/A | — | uncertain significance |
| rs771586756 | 13:114,762,168 | G/T | — | uncertain significance |
| rs61968020 | 13:114,764,535 | G/C | regulatory region variant | — |
| rs148651994 | 13:114,765,082 | C/T | — | likely benign |
| rs757773162 | 13:114,765,090 | G/C | — | uncertain significance |
| rs749215187 | 13:114,765,135 | G/A | — | uncertain significance |
| rs188946619 | 13:114,765,417 | T/G | — | — |
| rs116338429 | 13:114,767,040 | C/T | intron variant | — |
| rs552886585 | 13:114,772,071 | A/C | — | — |
| rs1393127286 | 13:114,773,019 | G/C | — | uncertain significance |
| rs2053543415 | 13:114,773,039 | C/T | — | uncertain significance |
| rs770987351 | 13:114,773,040 | T/C | — | uncertain significance |
| rs912555758 | 13:114,773,058 | C/T | — | uncertain significance |
| rs146882654 | 13:114,773,059 | C/G | — | benign |
| rs780630268 | 13:114,776,670 | C/T | — | uncertain significance |
| rs777581034 | 13:114,776,682 | C/T | — | likely benign |
| rs772449087 | 13:114,776,711 | G/C | — | uncertain significance |
| rs200485426 | 13:114,776,714 | G/A | — | uncertain significance |
| rs779966601 | 13:114,778,628 | G/A | — | uncertain significance |
| rs756841218 | 13:114,778,669 | A/T | — | uncertain significance |
| rs374791206 | 13:114,778,724 | T/A | — | uncertain significance |
| rs370722435 | 13:114,780,724 | A/T | — | uncertain significance |
| rs374677570 | 13:114,780,735 | A/G | — | uncertain significance |
| rs1410858202 | 13:114,780,762 | T/C | — | uncertain significance |
| rs754086411 | 13:114,780,765 | G/C | — | uncertain significance |
| rs139577367 | 13:114,780,781 | C/T | — | likely benign |
| rs78831157 | 13:114,780,782 | G/A | — | benign |
| rs144637782 | 13:114,780,784 | G/A | — | uncertain significance |
| rs139392233 | 13:114,781,697 | G/T | — | uncertain significance |
| rs201341686 | 13:114,781,720 | T/C | — | uncertain significance |
| rs1283386138 | 13:114,782,816 | G/A | — | uncertain significance |
| rs142357441 | 13:114,782,819 | T/C | — | uncertain significance |
| rs889023486 | 13:114,783,599 | C/T | — | uncertain significance |
| rs1270470432 | 13:114,783,602 | T/C | — | uncertain significance |
| rs377588790 | 13:114,783,614 | T/C | — | uncertain significance |
| rs1036576299 | 13:114,783,665 | C/T | — | likely benign |
| rs769319468 | 13:114,783,685 | C/T | — | uncertain significance |
| rs995188653 | 13:114,783,686 | G/A | — | uncertain significance |
| rs199737016 | 13:114,783,712 | G/A | — | uncertain significance |
| rs151265782 | 13:114,784,270 | C/T | — | uncertain significance |
| rs775288392 | 13:114,784,276 | G/A | — | uncertain significance |
| rs572689304 | 13:114,784,277 | G/A | — | uncertain significance |
| rs201581994 | 13:114,784,312 | G/A | — | uncertain significance |
| rs756924044 | 13:114,784,330 | C/T | — | uncertain significance |
| rs779844203 | 13:114,784,360 | C/T | — | uncertain significance |
| rs775972632 | 13:114,786,887 | C/G | — | uncertain significance |
| rs529417970 | 13:114,789,824 | C/T | — | uncertain significance |
| rs778161161 | 13:114,789,825 | G/A | — | uncertain significance |
| rs529222052 | 13:114,793,396 | C/T | — | uncertain significance |
| rs750090044 | 13:114,795,294 | C/T | — | uncertain significance |
| rs150861256 | 13:114,796,013 | G/T | — | — |
| rs7983712 | 13:114,804,789 | C/T | intron variant | — |
| rs7984414 | 13:114,805,121 | C/A | regulatory region variant | — |
| rs142665593 | 13:114,806,502 | G/A | — | uncertain significance |
| rs576761327 | 13:114,806,547 | C/T | — | uncertain significance |
| rs771883887 | 13:114,817,545 | G/A | — | uncertain significance |
| rs1566529937 | 13:114,817,550 | A/G | — | likely pathogenic |
| rs548221956 | 13:114,817,551 | C/T | — | uncertain significance |
| rs768252374 | 13:114,817,560 | C/T | — | uncertain significance |
| rs56023786 | 13:114,818,441 | G/C | intron variant | — |
| rs2079619635 | 13:114,839,245 | G/C | — | uncertain significance |
| rs71437272 | 13:114,882,724 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.