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MSH6 A1320Sfs*5 - Gene Variant Detail

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Gene MSH6
Variant A1320Sfs*5
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH6 A1320Sfs*5 indicates a shift in the reading frame starting at amino acid 1320 and terminating 5 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). A1320Sfs*5 has been identified in the scientific literature (PMID: 35739269, PMID: 33393477, PMID: 18809606), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 A1320Sfs*5

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Transcript NM_000179.3
gDNA chr2:g.47806607dupA
cDNA c.3957dupA
Protein p.A1320Sfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47806607dupA c.3957dupA p.A1320Sfs*5 RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806607dupA c.3957dupA p.A1320Sfs*5 RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806607dupA c.3957dupA p.A1320Sfs*5 RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806607dupA c.3957dupA p.A1320Sfs*5 RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806607dupA c.3957dupA p.A1320Sfs*5 RefSeq GRCh38/hg38

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  • 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries