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Gene MSH6
Variant S341A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S341A lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). S341A does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), 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 S341A

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Transcript NM_000179.3
gDNA chr2:g.47799004T>G
cDNA c.1021T>G
Protein p.S341A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47798908T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_000179 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47798908T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799004T>G c.1021T>G p.S341A RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries