MSH6 E1322*
Gene Variant Detail

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Gene MSH6
Variant E1322*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions MSH6 E1322* results in a premature truncation of the Msh6 protein at amino acid 1322 of 1360 (UniProt.org). E1322* has been identified in the scientific literature (PMID: 36765365, PMID: 31175329, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 E1322*

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Transcript NM_000179.3
gDNA chr2:g.47806614G>T
cDNA c.3964G>T
Protein p.E1322*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406804.1 chr2:g.47806819G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806614G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806614G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_000179 chr2:g.47806614G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806614G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806614G>T c.3964G>T p.E1322* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806614G>T c.3964G>T p.E1322* 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
MSH6 E1322* unknown