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Gene MSH6
Variant H1248R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 H1248R lies within the ATPase domain of the Msh6 protein (PMID: 17531815). H1248R (corresponds to H1246R in mouse) results in similar ATP and mismatch binding to wild-type Msh6, but demonstrates intermediate mismatch repair activity in in vitro assays (PMID: 31965077), and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 H1248R

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Transcript NM_000179.3
gDNA chr2:g.47806300A>G
cDNA c.3743A>G
Protein p.H1248R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_000179 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806300A>G c.3743A>G p.H1248R RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806300A>G c.3743A>G p.H1248R 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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Molecular Profile Protein Effect Treatment Approaches
MSH6 H1248R unknown