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Gene MLH1
Variant T82A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 T82A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). T82A confers a loss of function to the Mlh1 protein as demonstrated by deficient mismatch repair activity in in vitro assays (PMID: 22736432) and in cultured cells (PMID: 31881334).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 T82A

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Transcript NM_000249.4
gDNA chr3:g.37000991A>G
cDNA c.244A>G
Protein p.T82A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_000249 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000991A>G c.244A>G p.T82A RefSeq GRCh38/hg38

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