Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | MSH6 |
| Variant | V1350A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 V1350A lies within the ATPase domain of the Msh6 protein (PMID: 17531815). V1350A has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 V1350A |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47806826T>C |
| cDNA | c.4049T>C |
| Protein | p.V1350A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000179 | chr2:g.47806826T>C | c.4049T>C | p.V1350A | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47806826T>C | c.4049T>C | p.V1350A | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47806826T>C | c.4049T>C | p.V1350A | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47806826T>C | c.4049T>C | p.V1350A | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47806826T>C | c.4049T>C | p.V1350A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|