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 | E544D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 E544D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). E544D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 E544D |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.47799615A>C |
| cDNA | c.1632A>C |
| Protein | p.E544D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406802.1 | chr2:g.47799519G>C | c.1632G>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281494.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406812.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406795.1 | chr2:g.47799519G>C | c.1632G>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406803.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281494 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281493.2 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406816.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406814.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406798.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| XM_024452822.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406800.1 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281493 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406829.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.47799615A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406823.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406815.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281493.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001406811.1 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| NM_001281494.2 | chr2:g.47800521A>C | c.1632A>C | p.E544D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MSH6 E544D | unknown |