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Gene MSH6
Variant Y556F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 Y556F lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). Y556F 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 Y556F

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Transcript NM_000179.3
gDNA chr2:g.47799650A>T
cDNA c.1667A>T
Protein p.Y556F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47799554A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_000179 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47799554A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799650A>T c.1667A>T p.Y556F RefSeq GRCh38/hg38

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