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|Synonyms||GTBP | GTMBP | HNPCC5 | HSAP | p160|
|Gene Description||MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).|
|ACMG Incidental List v2.0:||
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|inact mut||unknown||loss of function||MSH6 inact mut indicates that this variant results in a loss of function of the Msh6 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||MSH6 mutant indicates an unspecified mutation in the MSH6 gene.|