RASA2

RAS p21 protein activator 2

Summary

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants562 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs767937276	3:141,205,911	G/T	—	uncertain significance
rs538827438	3:141,205,930	C/T	—	uncertain significance
rs2081585604	3:141,205,934	G/T	—	likely benign
rs1448250137	3:141,205,936	C/T	—	uncertain significance
rs1290038358	3:141,205,937	G/A	—	likely benign
rs1335723224	3:141,205,938	G/C	—	uncertain significance
rs1394181436	3:141,205,939	C/G	—	uncertain significance
rs766091284	3:141,205,940	G/A	—	likely benign
rs201352230	3:141,205,942	C/T	—	conflicting classifications of pathogenicity
rs1161681842	3:141,205,944	G/C	—	uncertain significance
rs1371192068	3:141,205,949	T/G	—	likely benign
rs2478324951	3:141,205,950	G/T	—	uncertain significance
rs200191034	3:141,205,951	C/T	—	likely benign
rs917974797	3:141,205,952	G/A	—	likely benign
rs1461949496	3:141,205,954	C/T	—	uncertain significance
rs2478325116	3:141,205,959	T/A	—	uncertain significance
rs781067370	3:141,205,960	C/T	—	conflicting classifications of pathogenicity
rs747843653	3:141,205,962	T/G	—	conflicting classifications of pathogenicity
rs376313232	3:141,205,963	C/T	—	conflicting classifications of pathogenicity
rs2478325275	3:141,205,973	A/G	—	likely benign
rs771121510	3:141,205,975	C/T	—	uncertain significance
rs774514124	3:141,205,978	C/T	—	uncertain significance
rs2478325348	3:141,205,981	G/C	—	uncertain significance
rs2478325405	3:141,205,988	T/G	—	likely benign
rs2478325459	3:141,205,995	C/A	—	uncertain significance
rs536687230	3:141,205,996	C/T	—	uncertain significance
rs764705381	3:141,205,997	C/A	—	likely benign
rs1370212374	3:141,206,003	C/G	—	likely benign
rs892940460	3:141,206,005	G/T	—	uncertain significance
rs1384554972	3:141,206,013	G/T	—	uncertain significance
rs762512162	3:141,206,015	C/T	—	likely benign
rs2478325747	3:141,206,017	G/A	—	uncertain significance
rs765891037	3:141,206,018	T/G	—	uncertain significance
rs1396381787	3:141,206,019	C/G	—	uncertain significance
rs777913288	3:141,206,033	G/A	—	likely benign
rs749251130	3:141,206,043	C/T	—	likely benign
rs1414943487	3:141,206,047	G/A	—	uncertain significance
rs1335032605	3:141,206,049	G/T	—	uncertain significance
rs2478326245	3:141,206,056	T/C	—	uncertain significance
rs1353085625	3:141,206,067	G/A	—	likely benign
rs775544477	3:141,206,068	G/A	—	likely benign
rs75276363	3:141,210,700	C/T	intron variant	—
rs9838230	3:141,215,273	C/T	intron variant	—
rs77468424	3:141,215,498	C/A	—	—
rs34317570	3:141,227,451	T/C	—	—
rs763984505	3:141,230,995	A/G	—	likely benign
rs753646510	3:141,230,998	C/G	—	likely benign
rs2478436909	3:141,231,011	C/A	—	uncertain significance
rs865973122	3:141,231,019	T/G	—	uncertain significance
rs757282345	3:141,231,021	A/G	—	likely benign
rs143703190	3:141,231,027	A/G	—	likely benign
rs750558208	3:141,231,028	T/G	—	uncertain significance
rs1450524777	3:141,231,036	A/G	—	likely benign
rs2081962202	3:141,231,053	A/G	—	uncertain significance
rs758407240	3:141,231,057	T/C	—	likely benign
rs768803593	3:141,231,066	C/T	—	likely benign
rs995854799	3:141,231,075	G/A	—	likely benign
rs1275494554	3:141,231,082	G/A	—	uncertain significance
rs773584568	3:141,231,094	C/T	—	uncertain significance
rs759141778	3:141,231,095	G/A	—	uncertain significance
rs2478437747	3:141,231,096	T/C	—	likely benign
rs763791807	3:141,231,119	T/G	—	uncertain significance
rs765333641	3:141,231,137	T/A	—	likely benign
rs932778072	3:141,231,138	T/C	—	likely benign
rs188249997	3:141,234,906	G/C	—	likely benign
rs113989045	3:141,234,921	A/C	—	benign
rs184922882	3:141,235,152	C/G	—	benign
rs768464571	3:141,235,173	A/G	—	likely benign
rs2478460591	3:141,235,195	T/C	—	uncertain significance
rs761761007	3:141,235,204	C/A	—	uncertain significance
rs2151084234	3:141,235,210	A/C	—	uncertain significance
rs1489176259	3:141,235,214	T/C	—	uncertain significance
rs1235489668	3:141,235,217	A/G	—	uncertain significance
rs1032828030	3:141,235,234	G/A	—	uncertain significance
rs2478461192	3:141,235,238	A/G	—	uncertain significance
rs950671545	3:141,235,254	A/G	—	likely benign
rs956728389	3:141,235,263	T/A	—	uncertain significance
rs767782524	3:141,235,267	C/T	—	conflicting classifications of pathogenicity
rs752928043	3:141,235,268	G/A	—	uncertain significance
rs1371222212	3:141,235,283	A/G	—	likely benign
rs79308158	3:141,248,515	A/G	—	benign
rs772907849	3:141,248,535	A/C	—	likely benign
rs766290459	3:141,248,545	T/C	—	likely benign
rs1361023120	3:141,248,546	G/A	—	likely benign
rs1672734235	3:141,248,553	A/G	—	uncertain significance
rs1288834971	3:141,248,558	G/A	—	uncertain significance
rs2478524428	3:141,248,560	C/T	—	likely benign
rs1383229717	3:141,248,566	A/G	—	likely benign
rs971502860	3:141,248,568	A/G	—	uncertain significance
rs144759014	3:141,248,572	A/C	—	conflicting classifications of pathogenicity
rs759408772	3:141,248,573	G/A	—	uncertain significance
rs193019405	3:141,248,576	T/C	—	likely benign
rs1027197255	3:141,248,580	G/A	—	uncertain significance
rs200373783	3:141,248,582	A/G	—	uncertain significance
rs1209051733	3:141,248,592	G/A	—	uncertain significance
rs756350115	3:141,248,602	T/C	—	likely benign
rs2478525003	3:141,248,603	T/C	—	uncertain significance
rs185592030	3:141,248,608	T/C	—	likely benign
rs2082234321	3:141,248,611	A/G	—	likely benign
rs1199211004	3:141,248,617	G/T	—	uncertain significance

Showing 100 of 562 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.