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Gene | MSH6 |
Variant | Y1256* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 Y1256* results in a premature truncation of the Msh6 protein at amino acid 1256 of 1360 (UniProt.org). Y1256* has been identified in the scientific literature (PMID: 35739269, PMID: 33393477, PMID: 26552419), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 Y1256* |
Transcript | NM_000179.3 |
gDNA | chr2:g.47806325T>A |
cDNA | c.3768T>A |
Protein | p.Y1256* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47806325T>A | c.3768T>A | p.Y1256* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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