MLH1 E23D
Gene Variant Detail

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Gene MLH1
Variant E23D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 E23D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E23D results in Mlh1 expression and Pms2 interaction similar to wild-type (PMID: 31697235) and retains mismatch repair (MMR) activity in yeast assays, but results in 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 E23D

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Transcript NM_000249.4
gDNA chr3:g.36993616A>C
cDNA c.69A>C
Protein p.E23D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354629.2 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_000249 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
XM_005265161 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001258271 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36993616A>C c.69A>C p.E23D RefSeq GRCh38/hg38

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