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Gene MSH6
Variant S1279N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S1279N lies within the ATPase domain of the Msh6 protein (PMID: 17531815). S1279N has been identified in sequencing studies (PMID: 30171174), 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 S1279N

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Transcript NM_000179.3
gDNA chr2:g.47806486G>A
cDNA c.3836G>A
Protein p.S1279N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
NM_000179 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806486G>A c.3836G>A p.S1279N RefSeq GRCh38/hg38
XM_011532798 chr2:g.47806796G>A c.3836G>A p.S1279N 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.
  • 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