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| Gene | MSH6 |
| Variant | R1095C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 R1095C lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1095C was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 R1095C |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47803530C>T |
| cDNA | c.3283C>T |
| Protein | p.R1095C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406796.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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