MSH6 Chromosome 2
MutS homolog 6
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What This Gene Does
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]
Gene Info
Gene Group
"MutS homologs|PWWP domain containing|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000116062
Associated Conditions (59)
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
MSH6-related disorder
Endometrial carcinoma
Malignant tumor of breast
Inherited MMR deficiency (Lynch syndrome)
Mismatch repair cancer syndrome 3
Carcinoma of colon
Ovarian cancer
Breast and/or ovarian cancer
Lynch syndrome 1
bilateral breast cancer
Inherited ovarian cancer (without breast cancer)
Mismatch repair cancer syndrome 1
Hereditary cancer
Hereditary breast ovarian cancer syndrome
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
+39 more conditions
Key Variants
RS1000702910
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1021631442
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1042819
Conflicting classifications of pathogenicity
Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1042821
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS1046304919
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast
Health Risk
RS1051564593
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
Health Risk
RS1054003194
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057517629
Conflicting classifications of pathogenicity
Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057520319
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521667
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS1057522150
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5
Health Risk
RS1057522403
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Lynch syndrome, Lynch syndrome 5
Health Risk
All Variants (2746)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553333690 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553333700 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553408158 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553408245 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553408267 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553408380 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553408388 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3 |
| RS1553408413 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553410230 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553410300 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553410342 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553411391 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553411392 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553411409 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412041 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412064 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412090 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553412129 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553412283 | Health Risk | Pathogenic | Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412289 | Health Risk | Pathogenic | — |
| RS1553412294 | Health Risk | Pathogenic | — |
| RS1553412397 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412409 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412495 | Health Risk | Pathogenic | Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412502 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412649 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412735 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412755 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412804 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553412824 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412835 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553412851 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553412902 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553412960 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553412966 | Health Risk | Pathogenic | Carcinoma of colon, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553412979 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413006 | Health Risk | Pathogenic | Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553413074 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS1553413116 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413138 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413200 | Health Risk | Pathogenic | Colon adenocarcinoma, Hereditary cancer-predisposing syndrome, Colon adenocarcinoma |
| RS1553413305 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553413348 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553413470 | Health Risk | Pathogenic | Lynch syndrome 5, Lynch syndrome 5 |
| RS1553413599 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1553413663 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5 |
| RS1553413673 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553413693 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS1553413707 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1553413732 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |