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Gene | MSH6 |
Variant | A25S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MSH6 A25S does not lie within any known functional domains of the Msh6 protein (UniProt.org). A25S demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 22102614), and was not identified to interfere with Msh6 mismatch repair activity in a functional screen (PMID: 28531214). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 A25S |
Transcript | NM_000179.3 |
gDNA | chr2:g.47783306G>T |
cDNA | c.73G>T |
Protein | p.A25S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001281492.2 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406813.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001281492.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001407362.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406802.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406795.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001281492 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47783306G>T | c.73G>T | p.A25S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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