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Gene | MSH6 |
Variant | W777* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MSH6 W777* results in a premature truncation of the Msh6 protein at amino acid 777 of 1360 (UniProt.org). W777* has not been characterized, however, due to the loss of several functional domains including the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh6 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 inact mut MSH6 W777* |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800313G>A |
cDNA | c.2330G>A |
Protein | p.W777* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024452819.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47800313G>A | c.2330G>A | p.W777* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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