Gene Variant Detail

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Gene MLH1
Variant V506A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 V506A lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). V506A results in reduced binding to Pms2 when compared to wild-type in an in vitro assay (PMID: 10037723, PMID: 11292842), and reduced binding to Pms2 and Exo1 in a yeast two-hybrid assay (PMID: 12810663), and therefore, is predicted to result in a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 V506A

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Transcript NM_000249.3
gDNA chr3:g.37028891T>C
cDNA c.1517T>C
Protein p.V506A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38
NM_000249 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37028891T>C c.1517T>C p.V506A RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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