rs41285097
This variant is located in the MLH1 gene.
▶ClinVar annotation
Familial colorectal cancer; Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary nonpolyposis colorectal neoplasms; not provided; not specified; Mismatch repair cancer syndrome 1;Muir-Torré syndrome;Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary breast ovarian cancer syndrome
View on ClinVar →About MLH1
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
View all MLH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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