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Gene | MSH6 |
Variant | V509A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MSH6 V509A lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V509A 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 V509A |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799509T>C |
cDNA | c.1526T>C |
Protein | p.V509A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799509T>C | c.1526T>C | p.V509A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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