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Gene | MLH1 |
Variant | G67W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MLH1 G67W lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G67W results in decreased mismatch repair activity (MMR) in an in vitro assay (PMID: 17510385) and in cultured cells (PMID: 31784484). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 inact mut MLH1 G67W |
Transcript | NM_000249.4 |
gDNA | chr3:g.36996701G>T |
cDNA | c.199G>T |
Protein | p.G67W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |