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 | A1204E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 A1204E lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204E has been identified in sequencing studies (PMID: 22832583), 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 A1204E |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47805672C>A |
| cDNA | c.3611C>A |
| Protein | p.A1204E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406830.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406819.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406801.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406804.1 | chr2:g.47806246C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| XM_011532799 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406824.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406797.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406822.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406828.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406821.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406805.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406818.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406820.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406827.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47805672C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| NM_001406825.1 | chr2:g.47806558C>A | c.3611C>A | p.A1204E | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|