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Gene MSH6
Variant V878A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 V878A lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). The functional effect of V878A is conflicting, as it demonstrates decreased Msh6 ATPase activity in vitro in one study (PMID: 18790734), but demonstrates proficient mismatch repair activity in an in vitro assay in another study (PMID: 22102614), and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 V878A

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Transcript NM_000179.3
gDNA chr2:g.47800616T>C
cDNA c.2633T>C
Protein p.V878A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_000179 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800616T>C c.2633T>C p.V878A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800616T>C c.2633T>C p.V878A 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.
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Molecular Profile Protein Effect Treatment Approaches
MSH6 V878A unknown