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Gene | MSH6 |
Variant | F340S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 F340S lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). F340S does not demonstrate reduced mismatch repair activity compared to wild-type Msh6 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 F340S |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799002T>C |
cDNA | c.1019T>C |
Protein | p.F340S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406803.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799002T>C | c.1019T>C | p.F340S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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