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Gene MSH6
Variant F1088Sfs*2
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH6 F1088Sfs*2 indicates a shift in the reading frame starting at amino acid 1088 and terminating 2 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). F1088Sfs*2 has been identified in the scientific literature (PMID: 32923878, PMID: 31857677, PMID: 30877237), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 F1088fs MSH6 F1088Sfs*2

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Transcript NM_000179.3
gDNA chr2:g.47803510delT
cDNA c.3263delT
Protein p.F1088Sfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406808.1 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47803510delT c.3263delT p.F1088Sfs*2 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.
  • 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