MSH6 K1358Dfs*2 - Gene Variant Detail

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Gene MSH6
Variant K1358Dfs*2
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH6 K1358Dfs*2 indicates a shift in the reading frame starting at amino acid 1358 and terminating 2 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). K1358Dfs*2 has been identified in sequencing studies (PMID: 33804295), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 K1358fs MSH6 K1358Dfs*2

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Transcript NM_000179.3
gDNA chr2:g.47806848_47806849insGACT
cDNA c.4071_4072insGACT
Protein p.K1358Dfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47806848_47806849insGACT c.4071_4072insGACT p.K1358Dfs*2 RefSeq GRCh38/hg38
NM_000179 chr2:g.47806847_47806848insCGAT c.4070_4071insCGAT p.K1358Dfs*2 RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806848_47806849insGACT c.4071_4072insGACT p.K1358Dfs*2 RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806848_47806849insGACT c.4071_4072insGACT p.K1358Dfs*2 RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806848_47806849insGACT c.4071_4072insGACT p.K1358Dfs*2 RefSeq GRCh38/hg38

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  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References