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Gene MSH6
Variant A175V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 A175V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A175V demonstrates intermediate mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 A175V

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Transcript NM_000179.3
gDNA chr2:g.47795960C>T
cDNA c.524C>T
Protein p.A175V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406817.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406806.1 chr2:g.47799032C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_000179 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47795960C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406807.1 chr2:g.47799032C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406799.1 chr2:g.47799032C>T c.524C>T p.A175V RefSeq GRCh38/hg38
NM_001406832.1 chr2:g.47806234C>T c.524C>T p.A175V 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MSH6 A175V unknown