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| Gene | MSH6 |
| Variant | R1331P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 R1331P lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1331P results in subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 R1331P |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47806642G>C |
| cDNA | c.3992G>C |
| Protein | p.R1331P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406808.1 | chr2:g.47806642G>C | c.3992G>C | p.R1331P | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47806642G>C | c.3992G>C | p.R1331P | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47806642G>C | c.3992G>C | p.R1331P | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47806642G>C | c.3992G>C | p.R1331P | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47806642G>C | c.3992G>C | p.R1331P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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