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Gene MSH6
Variant S503C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S503C lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). S503C (corresponding to S502C in mouse) demonstrates proficient mismatch repair activity compared to wild-type protein in in vitro assays (PMID: 22102614, PMID: 31965077), results in levels of tumor development similar to mouse models with wild-type Msh6, but leads to higher levels of serum antinuclear antibodies, decreased lifespan, increased infiltration of immune cells in the lungs, and altered somatic hypermutation in mouse models (PMID: 35708944).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S503C

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Transcript NM_000179.3
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
NM_001406803.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
XM_011532798 chr2:g.47799674_47799675delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47805623A>T c.1507A>T p.S503C RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47799674_47799675delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799491C>G c.1508C>G p.S503C RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799788_47799789delCAinsGT c.1508_1509delCAinsGT p.S503C RefSeq GRCh38/hg38

Filtering

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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

  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References