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Gene MSH6
Variant S666P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S666P lies within the connector domain of the Msh6 protein (PMID: 17531815). S666P was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S666P

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Transcript NM_000179.3
gDNA chr2:g.47799979T>C
cDNA c.1996T>C
Protein p.S666P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47799973T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47800147T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47805623_47805624delAGinsCC c.1996_1997delAGinsCC p.S666P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799979T>C c.1996T>C p.S666P RefSeq GRCh38/hg38

Filtering

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