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Gene MLH1
Variant A492T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 A492T lies within the EXO1-interacting region and C-terminal dimerization domain of the MLH1 protein (PMID: 22753075). A492T results in repression activity similar to wild-type Mlh1 in a yeast reporter assay and interaction with Pms2 similar to wild-type Mlh1 in a yeast two-hybrid assay, but results in decreased Exo1 interaction in a yeast two-hybrid assay, decreased Pms2 binding in an in vitro assay (PMID: 12810663), and decreased MMR activity in an in vitro assay (PMID: 17510385), and therefore, is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 A492T

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Transcript NM_000249.4
gDNA chr3:g.37028848G>A
cDNA c.1474G>A
Protein p.A492T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.1 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37028848G>A c.1474G>A p.A492T RefSeq GRCh38/hg38

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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