RAD54L

RAD54 like

Summary

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

Known Variants808 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs570187706	1:46,711,907	C/T	—	—
rs2525626447	1:46,714,185	G/C	—	uncertain significance
rs2525626452	1:46,714,186	G/T	—	uncertain significance
rs2525626463	1:46,714,187	A/T	—	uncertain significance
rs748348499	1:46,714,188	G/A	—	uncertain significance
rs772321829	1:46,714,189	G/C	—	uncertain significance
rs1310480172	1:46,714,191	G/T	—	uncertain significance
rs1320062472	1:46,714,193	T/C	—	likely benign
rs2525626495	1:46,714,194	T/C	—	uncertain significance
rs2525626501	1:46,714,195	G/A	—	likely benign
rs2525626559	1:46,714,202	A/C	—	uncertain significance
rs2148274422	1:46,714,204	C/G	—	uncertain significance
rs1571708658	1:46,714,206	A/G	—	uncertain significance
rs1659712684	1:46,714,207	G/C	—	uncertain significance
rs200923903	1:46,714,208	C/G	—	uncertain significance
rs1328705551	1:46,714,210	G/A	—	likely benign
rs2525626629	1:46,714,213	C/T	—	likely benign
rs2525626643	1:46,714,216	G/C	—	uncertain significance
rs1659713087	1:46,714,218	G/A	—	uncertain significance
rs771415284	1:46,714,224	C/T	—	uncertain significance
rs1426517703	1:46,714,225	T/C	—	likely benign
rs372009941	1:46,714,228	A/G	—	likely benign
rs2525626740	1:46,714,229	G/A	—	uncertain significance
rs1659713656	1:46,714,234	G/T	—	uncertain significance
rs1380048932	1:46,714,235	T/C	—	likely benign
rs2148274463	1:46,714,236	C/G	—	uncertain significance
rs532813905	1:46,714,237	C/T	—	likely benign
rs2525626797	1:46,714,239	G/C	—	likely benign
rs28363192	1:46,714,242	G/A	—	likely benign
rs2525626843	1:46,714,244	G/A	—	uncertain significance
rs774041371	1:46,714,249	A/G	—	likely benign
rs2525626862	1:46,714,250	G/T	—	uncertain significance
rs1659714385	1:46,714,252	C/G	—	uncertain significance
rs1410796512	1:46,714,259	C/A	—	uncertain significance
rs2525626937	1:46,714,262	G/A	—	uncertain significance
rs750174954	1:46,714,264	C/A	—	likely benign
rs372813999	1:46,714,266	T/C	—	uncertain significance
rs1659715102	1:46,714,268	G/A	—	uncertain significance
rs776452553	1:46,715,675	C/T	—	uncertain significance
rs112896925	1:46,715,676	C/G	—	conflicting classifications of pathogenicity
rs2525632288	1:46,715,679	G/A	—	likely benign
rs2525632295	1:46,715,681	A/C	—	uncertain significance
rs369982284	1:46,715,684	C/T	—	uncertain significance
rs1320236099	1:46,715,685	G/A	—	uncertain significance
rs2525632322	1:46,715,686	G/T	—	likely benign
rs1659754522	1:46,715,689	A/G	—	likely benign
rs1405808679	1:46,715,692	C/T	—	likely benign
rs1481353936	1:46,715,697	G/A	—	uncertain significance
rs1189266124	1:46,715,698	T/C	—	likely benign
rs1421471663	1:46,715,699	G/A	—	uncertain significance
rs1449828957	1:46,715,703	C/T	—	uncertain significance
rs1659755428	1:46,715,715	A/G	—	uncertain significance
rs1269546414	1:46,715,717	T/G	—	uncertain significance
rs2525632642	1:46,715,718	G/A	—	uncertain significance
rs2525632652	1:46,715,719	T/C	—	likely benign
rs114069917	1:46,715,725	G/C	—	likely benign
rs749876360	1:46,715,729	C/G	—	uncertain significance
rs530382665	1:46,715,735	C/G	—	uncertain significance
rs762922483	1:46,715,741	C/G	—	uncertain significance
rs746613212	1:46,715,745	T/G	—	uncertain significance
rs1659756571	1:46,715,747	A/G	—	uncertain significance
rs2525632827	1:46,715,749	T/G	—	uncertain significance
rs1289902575	1:46,715,751	A/G	—	uncertain significance
rs2148276131	1:46,715,752	G/A	—	likely benign
rs2525632859	1:46,715,758	C/T	—	likely benign
rs922837357	1:46,715,761	T/C	—	likely benign
rs1659756967	1:46,715,765	C/A	—	uncertain significance
rs775290794	1:46,715,767	A/G	—	likely benign
rs121908688	1:46,715,769	C/A	missense variant	pathogenic
rs1187652427	1:46,715,774	C/T	—	likely benign
rs2525632960	1:46,715,775	T/C	—	uncertain significance
rs1659757506	1:46,715,777	G/A	—	uncertain significance
rs765096628	1:46,715,779	C/T	—	likely benign
rs2525632997	1:46,715,780	A/G	—	uncertain significance
rs2525660115	1:46,724,358	G/A	—	uncertain significance
rs2525660123	1:46,724,361	G/C	—	uncertain significance
rs2525660132	1:46,724,363	A/C	—	likely benign
rs2525660144	1:46,724,366	T/C	—	likely benign
rs28363209	1:46,724,369	T/G	—	uncertain significance
rs138566817	1:46,724,370	C/G	—	uncertain significance
rs745591449	1:46,724,371	G/T	—	uncertain significance
rs769566923	1:46,724,374	G/C	—	uncertain significance
rs775316332	1:46,724,381	G/A	—	likely benign
rs2525660225	1:46,724,382	T/G	—	uncertain significance
rs528145742	1:46,724,384	A/G	—	likely benign
rs1176799900	1:46,724,393	C/G	—	uncertain significance
rs2525660594	1:46,724,394	A/G	—	uncertain significance
rs2525660598	1:46,724,397	G/A	—	likely benign
rs774234340	1:46,724,398	T/C	—	uncertain significance
rs761954096	1:46,724,400	C/G	—	uncertain significance
rs2525660617	1:46,724,401	C/G	—	uncertain significance
rs1660009998	1:46,724,404	T/G	—	uncertain significance
rs1289616349	1:46,724,408	A/T	—	likely benign
rs2525660664	1:46,724,412	T/C	—	uncertain significance
rs767772706	1:46,724,414	T/C	—	likely benign
rs28363214	1:46,725,615	G/A	—	likely benign
rs2148286892	1:46,725,638	C/A	—	uncertain significance
rs774337754	1:46,725,639	C/T	—	uncertain significance
rs2148286901	1:46,725,641	C/T	—	likely benign
rs894556433	1:46,725,643	G/A	—	likely benign

Showing 100 of 808 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.