Gene Variant Detail

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Gene MSH6
Variant S503C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MSH6 S503C does not lie within any known functional domains of the Msh6 protein (UniProt.org). S503C demonstrates mismatch repair activity similar to wild-type Msh6 in a cell-free assay (PMID: 22102614), and is therefore predicted to have no effect on Msh6 protein function.
Associated Drug Resistance

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Transcript NM_000179
gDNA chr2:g.47799491C>G
cDNA c.1508C>G
Protein p.S503C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532799 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
XM_011532798 chr2:g.47799674_47799675delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 S503C no effect - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References