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Gene | MSH6 |
Variant | E946D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 E946D lies within the clamp domain of the Msh6 protein (PMID: 17531815). E946D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 E946D |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800821A>C |
cDNA | c.2838A>C |
Protein | p.E946D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406799.1 | chr2:g.47803610G>C | c.2838G>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406806.1 | chr2:g.47803610G>C | c.2838G>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47806259A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_001406807.1 | chr2:g.47803610G>C | c.2838G>C | p.E946D | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47800821A>C | c.2838A>C | p.E946D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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