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Gene MSH6
Variant G1139D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 G1139D lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1139D (corresponds to G1137D in mouse) results in reduced mismatch binding, impaired ATP binding, and deficient mismatch repair activity in in vitro assays (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 G1139D

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Transcript NM_000179.3
gDNA chr2:g.47803663G>A
cDNA c.3416G>A
Protein p.G1139D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_000179 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47803663G>A c.3416G>A p.G1139D RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries