MSH6 E1254del
Gene Variant Detail

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Gene MSH6
Variant E1254del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MSH6 E1254del results in the deletion of an amino acid in the ATPase domain of the Msh6 protein at amino acid 1254 (PMID: 17531815). E1254del has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2025).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 E1254del

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Transcript NM_000179.3
gDNA chr2:g.47806319_47806321delAGA
cDNA c.3762_3764delAGA
Protein p.E1254del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_000179 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254del RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries