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| Gene | MSH6 |
| Variant | D530Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 D530Y lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D530Y has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 D530Y |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47799571G>T |
| cDNA | c.1588G>T |
| Protein | p.D530Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406821.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406801.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406818.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406797.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406828.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406820.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406830.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406827.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| XM_011532799 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406805.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406803.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406825.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406817.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406824.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| XM_024452821.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406798.1 | chr2:g.47799571G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406819.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| NM_001406822.1 | chr2:g.47799868G>T | c.1588G>T | p.D530Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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