HEATR3

HEAT repeat containing 3

Summary

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

Known Variants61 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs8046856	16:50,098,887	A/C	upstream gene variant	—
rs2506457360	16:50,100,081	G/C	—	uncertain significance
rs1419529284	16:50,100,089	C/T	—	uncertain significance
rs142043637	16:50,100,161	C/G	—	uncertain significance
rs763391248	16:50,100,282	A/G	—	uncertain significance
rs552861738	16:50,100,298	G/C	—	uncertain significance
rs895777615	16:50,100,366	C/T	—	uncertain significance
rs1467109256	16:50,100,384	G/A	—	uncertain significance
rs2506460874	16:50,100,387	G/C	—	uncertain significance
rs1547478	16:50,101,015	A/C	upstream gene variant	—
rs2506469776	16:50,102,768	T/A	—	uncertain significance
rs2150594383	16:50,102,779	G/T	—	pathogenic
rs4785204	16:50,103,734	C/T	upstream gene variant	—
rs1184398890	16:50,104,089	T/C	—	pathogenic
rs2506474123	16:50,104,098	G/A	—	uncertain significance
rs772970361	16:50,106,541	A/G	—	uncertain significance
rs764222969	16:50,106,595	C/T	—	likely benign
rs757409742	16:50,106,601	A/G	—	uncertain significance
rs62033029	16:50,107,273	G/A	intron variant	—
rs9939688	16:50,109,100	T/C	intron variant	—
rs12931497	16:50,109,478	G/C	—	—
rs2150600578	16:50,109,578	C/T	—	pathogenic
rs754765170	16:50,112,675	A/G	—	uncertain significance
rs2506505117	16:50,112,862	A/G	—	uncertain significance
rs11645775	16:50,112,883	A/C	—	uncertain significance
rs2036804458	16:50,112,892	G/C	—	uncertain significance
rs991879561	16:50,112,895	T/C	—	uncertain significance
rs762444012	16:50,112,901	G/A	—	uncertain significance
rs749700428	16:50,112,918	G/A	—	uncertain significance
rs13338387	16:50,113,947	T/A	intron variant	—
rs772474268	16:50,117,875	A/G	—	uncertain significance
rs774997289	16:50,117,891	C/G	—	uncertain significance
rs138619304	16:50,117,915	T/C	—	uncertain significance
rs147344998	16:50,117,933	A/G	—	likely benign
rs200665394	16:50,118,063	G/C	—	uncertain significance
rs2506528139	16:50,118,104	G/C	—	uncertain significance
rs2506528631	16:50,118,146	C/G	—	uncertain significance
rs761887048	16:50,118,171	C/T	—	uncertain significance
rs145709797	16:50,118,183	A/G	—	uncertain significance
rs2150610519	16:50,118,526	G/A	—	pathogenic
rs528648667	16:50,120,133	A/G	—	uncertain significance
rs2506538859	16:50,120,260	C/G	—	uncertain significance
rs182721904	16:50,123,007	A/G	intron variant	—
rs60561577	16:50,128,572	A/G	upstream gene variant	—
rs774839437	16:50,128,616	A/G	—	uncertain significance
rs2506570596	16:50,128,628	A/G	—	uncertain significance
rs2506571112	16:50,128,670	T/A	—	uncertain significance
rs764919319	16:50,128,681	A/G	—	uncertain significance
rs144215698	16:50,128,688	C/G	—	uncertain significance
rs10852606	16:50,128,872	T/A	—	—
rs8047421	16:50,129,265	A/T	—	—
rs12926346	16:50,130,045	G/C	—	—
rs1298225980	16:50,134,170	A/T	—	uncertain significance
rs887938366	16:50,134,181	G/T	—	uncertain significance
rs141316989	16:50,134,193	G/C	—	uncertain significance
rs1251681451	16:50,134,201	G/A	—	uncertain significance
rs917466219	16:50,136,177	G/A	—	pathogenic
rs145036990	16:50,136,278	G/A	—	uncertain significance
rs149086832	16:50,136,320	G/C	—	benign
rs6500282	16:50,138,100	A/C	intron variant	—
rs927764878	16:50,138,883	G/C	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.