HRAS

HRas proto-oncogene, GTPase

Summary

This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants458 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs754990646	11:528,639	C/T	—	likely benign
rs181042528	11:528,669	C/T	—	likely benign
rs181336778	11:529,719	C/G	—	likely benign
rs187649794	11:530,444	G/A	—	likely benign
rs199711118	11:530,447	A/G	—	likely benign
rs569269635	11:530,466	G/C	—	likely benign
rs111377659	11:530,475	G/A	—	likely benign
rs12799430	11:530,522	G/C	—	likely benign
rs78408310	11:530,587	G/C	—	benign
rs77431035	11:530,614	G/C	—	likely benign
rs796506029	11:530,894	G/C	—	likely benign
rs1437411234	11:530,895	G/C	—	benign
rs1851074446	11:531,047	C/T	—	benign
rs1159027148	11:531,063	G/C	—	likely benign
rs1387119420	11:531,065	G/A	—	benign
rs534235694	11:531,070	G/A	—	likely benign
rs554309452	11:531,072	G/A	—	likely benign
rs868771958	11:531,174	C/G	—	likely benign
rs45565838	11:532,452	C/G	—	likely benign
rs730880459	11:532,524	T/G	—	likely benign
rs1851166964	11:532,570	C/T	—	benign
rs45524036	11:532,596	G/A	—	benign
rs200714754	11:532,602	G/A	—	benign
rs375219797	11:532,607	G/A	—	benign
rs756277885	11:532,611	G/A	—	benign
rs587780953	11:532,617	G/C	—	likely benign
rs730880327	11:532,635	G/A	—	likely benign
rs1324657141	11:532,639	G/C	—	likely benign
rs1851173218	11:532,640	G/A	—	uncertain significance
rs1851173462	11:532,641	A/C	—	uncertain significance
rs2133981970	11:532,642	G/C	—	likely benign
rs1851173673	11:532,646	A/G	—	uncertain significance
rs2539783676	11:532,647	C/T	—	uncertain significance
rs1230514063	11:532,651	C/T	—	likely benign
rs2133982018	11:532,655	C/T	—	uncertain significance
rs2539783761	11:532,658	C/T	—	uncertain significance
rs748639813	11:532,660	C/T	—	conflicting classifications of pathogenicity
rs1851174858	11:532,661	A/G	—	uncertain significance
rs730880465	11:532,662	T/C	—	uncertain significance
rs2133982060	11:532,663	G/A	—	likely benign
rs1187682907	11:532,664	C/T	—	uncertain significance
rs976055009	11:532,666	G/A	—	likely benign
rs1851175904	11:532,667	C/T	—	uncertain significance
rs772602067	11:532,668	C/T	—	uncertain significance
rs371316832	11:532,669	G/A	—	likely benign
rs760429548	11:532,670	G/A	—	uncertain significance
rs1201430199	11:532,671	G/A	—	uncertain significance
rs770431635	11:532,672	G/C	—	likely benign
rs1445835026	11:532,674	C/G	—	uncertain significance
rs2133982163	11:532,675	A/G	—	likely benign
rs1191074796	11:532,676	C/T	—	uncertain significance
rs2539783994	11:532,684	A/G	—	likely benign
rs2133982181	11:532,685	G/T	—	uncertain significance
rs397517144	11:532,686	G/C	—	uncertain significance
rs759004302	11:532,687	A/C	—	likely benign
rs1171786943	11:532,688	G/A	—	uncertain significance
rs1851178613	11:532,689	G/A	—	uncertain significance
rs765180494	11:532,690	G/T	—	uncertain significance
rs913523409	11:532,691	T/C	—	uncertain significance
rs2539784119	11:532,695	G/C	—	uncertain significance
rs397517143	11:532,696	C/T	—	likely benign
rs372936166	11:532,698	T/A	—	uncertain significance
rs142218590	11:532,700	C/T	—	uncertain significance
rs151229168	11:532,701	G/A	—	uncertain significance
rs756367459	11:532,703	A/G	—	uncertain significance
rs878854760	11:532,708	G/T	—	likely benign
rs1851180327	11:532,709	T/C	—	uncertain significance
rs1439562437	11:532,710	G/A	—	uncertain significance
rs2133982327	11:532,711	C/T	—	likely benign
rs2133982339	11:532,713	G/T	—	uncertain significance
rs1461319720	11:532,714	C/T	—	likely benign
rs753977266	11:532,715	C/G	—	uncertain significance
rs779101895	11:532,716	G/A	—	uncertain significance
rs2133982379	11:532,717	G/C	—	uncertain significance
rs1564787934	11:532,719	T/A	—	uncertain significance
rs2539784421	11:532,720	C/G	—	uncertain significance
rs1564787942	11:532,722	C/T	—	uncertain significance
rs2133982410	11:532,723	A/G	—	likely benign
rs748729430	11:532,724	C/T	—	uncertain significance
rs758956556	11:532,725	G/A	—	uncertain significance
rs2133982437	11:532,726	C/G	—	likely benign
rs1851181776	11:532,727	A/G	—	uncertain significance
rs140060409	11:532,729	C/A	—	uncertain significance
rs2133982455	11:532,730	A/G	—	uncertain significance
rs747269683	11:532,732	C/T	—	likely benign
rs587778400	11:532,733	G/A	—	uncertain significance
rs1851182643	11:532,737	A/G	—	uncertain significance
rs770648642	11:532,738	G/C	—	pathogenic
rs2133982557	11:532,740	A/G	—	pathogenic
rs375878504	11:532,741	G/A	—	likely benign
rs1269551105	11:532,742	G/A	—	uncertain significance
rs1171537215	11:532,743	C/A	—	uncertain significance
rs1412169294	11:532,744	A/G	—	likely benign
rs1434040739	11:532,745	T/A	—	uncertain significance
rs745497215	11:532,746	C/T	—	conflicting classifications of pathogenicity
rs2133982634	11:532,747	C/T	—	likely benign
rs2539784800	11:532,749	C/A	—	uncertain significance
rs1851183840	11:532,752	C/T	—	uncertain significance
rs1362209698	11:532,754	C/G	—	uncertain significance
rs2539784881	11:532,755	C/G	—	uncertain significance

Showing 100 of 458 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.