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Gene MSH6
Variant R1304K
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 R1304K lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1304K was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), and did not demonstrate mismatch repair deficiency in an in vitro assay (PMID: 31965077), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R1304K

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Transcript NM_000179.3
gDNA chr2:g.47806561G>A
cDNA c.3911G>A
Protein p.R1304K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47806561G>A c.3911G>A p.R1304K RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806561G>A c.3911G>A p.R1304K RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806561G>A c.3911G>A p.R1304K RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806561G>A c.3911G>A p.R1304K RefSeq GRCh38/hg38
NM_000179 chr2:g.47806561G>A c.3911G>A p.R1304K RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47806650_47806651delCGinsAA c.3910_3911delCGinsAA p.R1304K RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806561G>A c.3911G>A p.R1304K 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References