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Gene MLH1
Variant C77R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 C77R lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). C77R confers a loss of function to the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, reduced localization with Pms2 (PMID: 16083711), and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 C77R

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Transcript NM_000249.4
gDNA chr3:g.37000976T>C
cDNA c.229T>C
Protein p.C77R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.4 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_000249 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37000976T>C c.229T>C p.C77R RefSeq GRCh38/hg38

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