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Gene MSH6
Variant L1354Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 L1354Q lies within the ATPase domain of the Msh6 protein (PMID: 17531815). L1354Q (corresponding to L1352Q in mouse) results in Msh6 expression and Msh2 interaction similar to wild-type, proficient mismatch repair activity, suppression of microsatellite instability in cultured cells (PMID: 24040339), and subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), and therefore, is predicted to have no effect on Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 L1354Q

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Transcript NM_000179.3
gDNA chr2:g.47806838T>A
cDNA c.4061T>A
Protein p.L1354Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47806838T>A c.4061T>A p.L1354Q RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806838T>A c.4061T>A p.L1354Q RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806838T>A c.4061T>A p.L1354Q RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806838T>A c.4061T>A p.L1354Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
MSH6 L1354Q no effect - predicted