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Gene MSH6
Variant D1213E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 D1213E lies within the ATPase domain of the Msh6 protein (PMID: 17531815). D1213E (corresponds to D1211E in mouse) results in similar ATP and mismatch binding to wild-type protein, but demonstrates reduced 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 D1213E

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Transcript NM_000179.3
gDNA chr2:g.47805700T>G
cDNA c.3639T>G
Protein p.D1213E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406808.1 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47805014C>G c.3639C>G p.D1213E RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47805014C>G c.3639C>G p.D1213E RefSeq GRCh38/hg38
NM_000179 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47805700T>G c.3639T>G p.D1213E RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries