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Gene MSH6
Variant R495*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 R495* results in a premature truncation of the Msh6 protein at amino acid 495 of 1360 (UniProt.org). R495* has not been characterized, however, due to the loss of several functional domains including the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 R495*

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Transcript NM_000179.3
gDNA chr2:g.47799466C>T
cDNA c.1483C>T
Protein p.R495*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406798.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_000179 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799466C>T c.1483C>T p.R495* RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799466C>T c.1483C>T p.R495* 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 R495* loss of function - predicted