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Gene MSH6
Variant F573fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 F573fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 573 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). F573fs 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 F573fs

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Transcript NM_000179.3
gDNA chr2:g.(47799699_47799700)
cDNA c.(1717_1716)
Protein p.F573fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47799699_47799700) c.(1717_1716) p.F573fs 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 F573fs loss of function - predicted