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| Gene | MSH6 |
| Variant | S314I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 S314I does not lie within any known functional domains of the Msh6 protein (UniProt.org). S314I is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 S314I |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47798924G>T |
| cDNA | c.941G>T |
| Protein | p.S314I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001281493.2 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406811.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001281493 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406829.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| XM_024452822.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406823.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001281493.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406815.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406817.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406798.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406816.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001281494.2 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001281494 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406814.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406803.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001281494.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406812.1 | chr2:g.47799829_47799830delTCinsAT | c.940_941delTCinsAT | p.S314I | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47798924G>T | c.941G>T | p.S314I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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