MSH6

mutS homolog 6

Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

Known Variants4,089 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3136228	2:48,009,816	T/G	—	benign
rs3136229	2:48,009,925	G/A	—	benign
rs188265355	2:48,010,028	G/T	—	likely benign
rs371260512	2:48,010,085	C/T	—	likely benign
rs181096360	2:48,010,163	T/C	—	benign
rs41540312	2:48,010,214	C/T	—	benign
rs556432240	2:48,010,255	G/A	—	likely benign
rs886056139	2:48,010,317	G/T	—	uncertain significance
rs375109921	2:48,010,322	G/T	—	uncertain significance
rs755310531	2:48,010,323	C/G	—	likely benign
rs113081858	2:48,010,324	T/G	—	likely benign
rs964962194	2:48,010,325	T/A	—	likely benign
rs1057521187	2:48,010,326	T/C	—	likely benign
rs748339592	2:48,010,327	T/G	—	likely benign
rs1057520317	2:48,010,328	A/T	—	likely benign
rs1064793549	2:48,010,329	G/T	—	uncertain significance
rs886056140	2:48,010,332	G/T	—	uncertain significance
rs1412583057	2:48,010,334	T/C	—	benign
rs185538282	2:48,010,335	C/G	—	likely benign
rs747521149	2:48,010,336	C/A	—	likely benign
rs771435695	2:48,010,339	C/G	—	likely benign
rs1057522699	2:48,010,345	G/C	—	likely benign
rs773995995	2:48,010,347	A/G	—	likely benign
rs1064793670	2:48,010,348	C/T	—	uncertain significance
rs876661137	2:48,010,349	G/A	—	conflicting classifications of pathogenicity
rs1406816622	2:48,010,353	G/C	—	uncertain significance
rs761485894	2:48,010,354	G/C	—	likely benign
rs199913053	2:48,010,355	G/T	—	conflicting classifications of pathogenicity
rs370816858	2:48,010,356	C/G	—	conflicting classifications of pathogenicity
rs1064794403	2:48,010,357	C/A	—	conflicting classifications of pathogenicity
rs1057520318	2:48,010,359	T/C	—	likely benign
rs760597933	2:48,010,360	G/A	—	uncertain significance
rs766407370	2:48,010,361	C/G	—	conflicting classifications of pathogenicity
rs1225209597	2:48,010,362	C/T	—	likely benign
rs2103929891	2:48,010,363	G/A	—	uncertain significance
rs1558644641	2:48,010,364	G/A	—	uncertain significance
rs565211544	2:48,010,365	C/T	—	conflicting classifications of pathogenicity
rs1057523142	2:48,010,366	T/A	—	conflicting classifications of pathogenicity
rs730881822	2:48,010,367	G/T	—	conflicting classifications of pathogenicity
rs1572697690	2:48,010,368	T/C	—	uncertain significance
rs1114167784	2:48,010,369	C/A	—	uncertain significance
rs1668107743	2:48,010,370	G/A	—	uncertain significance
rs374748889	2:48,010,371	G/T	—	conflicting classifications of pathogenicity
rs1057522403	2:48,010,372	T/C	—	conflicting classifications of pathogenicity
rs2103930478	2:48,010,373	A/G	—	pathogenic
rs2530313399	2:48,010,374	T/C	—	pathogenic
rs876660095	2:48,010,375	G/T	missense variant	pathogenic
rs752887988	2:48,010,377	C/T	—	conflicting classifications of pathogenicity
rs1437951642	2:48,010,378	G/A	—	likely benign
rs1553408074	2:48,010,379	C/T	—	pathogenic
rs1553408078	2:48,010,380	G/C	—	uncertain significance
rs1553408080	2:48,010,381	A/G	—	likely benign
rs786201042	2:48,010,382	C/T	stop gained	pathogenic
rs1572697725	2:48,010,383	A/G	—	uncertain significance
rs1558644700	2:48,010,384	G/C	—	uncertain significance
rs2530313810	2:48,010,385	A/G	—	uncertain significance
rs532585602	2:48,010,386	G/A	—	uncertain significance
rs778036049	2:48,010,387	C/T	—	likely benign
rs200944853	2:48,010,388	A/C	—	conflicting classifications of pathogenicity
rs1572697743	2:48,010,389	C/T	—	uncertain significance
rs909257611	2:48,010,390	C/T	—	likely benign
rs1064795094	2:48,010,391	C/A	—	uncertain significance
rs2103931561	2:48,010,392	T/C	—	uncertain significance
rs757815307	2:48,010,393	G/T	—	likely benign
rs781670952	2:48,010,394	T/A	—	uncertain significance
rs1572697757	2:48,010,395	A/G	—	uncertain significance
rs746306598	2:48,010,396	C/G	—	pathogenic
rs41294986	2:48,010,397	A/G	—	conflicting classifications of pathogenicity
rs1572697767	2:48,010,398	G/C	—	uncertain significance
rs1572697773	2:48,010,399	C/A	—	uncertain significance
rs773861137	2:48,010,400	T/C	—	conflicting classifications of pathogenicity
rs1668110702	2:48,010,401	T/G	—	uncertain significance
rs786201869	2:48,010,402	C/G	—	uncertain significance
rs2103932161	2:48,010,403	T/G	—	uncertain significance
rs2103932194	2:48,010,404	T/C	—	uncertain significance
rs747802641	2:48,010,405	C/G	—	conflicting classifications of pathogenicity
rs587782084	2:48,010,406	C/A	—	conflicting classifications of pathogenicity
rs760603184	2:48,010,407	C/T	—	conflicting classifications of pathogenicity
rs760533525	2:48,010,408	C/G	—	likely benign
rs942019524	2:48,010,409	A/T	—	pathogenic
rs41294988	2:48,010,410	A/T	missense variant	uncertain significance
rs1668112040	2:48,010,411	G/T	—	uncertain significance
rs876660417	2:48,010,412	T/G	—	uncertain significance
rs863224628	2:48,010,413	C/T	—	conflicting classifications of pathogenicity
rs1668112357	2:48,010,414	T/G	—	conflicting classifications of pathogenicity
rs776745497	2:48,010,415	C/T	—	conflicting classifications of pathogenicity
rs869312800	2:48,010,416	C/T	—	uncertain significance
rs1572697821	2:48,010,417	G/A	—	likely benign
rs2103933032	2:48,010,418	G/A	—	uncertain significance
rs759501511	2:48,010,419	C/T	—	conflicting classifications of pathogenicity
rs1250671114	2:48,010,420	G/C	—	likely benign
rs2103933185	2:48,010,421	C/G	—	uncertain significance
rs1553408119	2:48,010,422	T/C	—	uncertain significance
rs2103933274	2:48,010,423	G/A	—	likely benign
rs1553408122	2:48,010,424	A/C	—	conflicting classifications of pathogenicity
rs765459817	2:48,010,425	G/A	—	uncertain significance
rs1668113424	2:48,010,427	G/T	—	uncertain significance
rs1553408133	2:48,010,428	A/G	—	uncertain significance
rs752794296	2:48,010,429	T/A	—	uncertain significance
rs1439274983	2:48,010,430	G/A	—	uncertain significance

Showing 100 of 4,089 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.