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Gene | MSH6 |
Variant | Y850C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 Y850C lies within the lever domain of the Msh6 protein (PMID: 17531815). Y850C demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 22102614), 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 Y850C |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800532A>G |
cDNA | c.2549A>G |
Protein | p.Y850C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406808.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47800532A>G | c.2549A>G | p.Y850C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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