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Gene MLH1
Variant D304V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 D304V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D304V results in a loss of mismatch repair (MMR) activity in an in vitro assay (PMID: 17510385) and in cell culture (PMID: 31784484), and a loss of Pms2 interaction in a yeast two-hybrid assay (PMID: 21952876).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 D304V

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Transcript NM_000249.4
gDNA chr3:g.37020336A>T
cDNA c.911A>T
Protein p.D304V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.2 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_000249 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020336A>T c.911A>T p.D304V RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References