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MSH6 T1219I - Gene Variant Detail

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Gene MSH6
Variant T1219I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MSH6 T1219I lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1219I results in a loss of Msh6 protein function, as indicated by loss of mismatch-induced conformational changes and defective DNA mismatch repair activity in in vitro assays (PMID: 22277660, PMID: 31965077).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 T1219I

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Transcript NM_000179.3
gDNA chr2:g.47806213C>T
cDNA c.3656C>T
Protein p.T1219I
Source Database RefSeq
Genome Build GRCh38/hg38

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