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Gene MSH6
Variant Y1066Wfs*21
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 Y1066Wfs*21 indicates a shift in the reading frame starting at amino acid 1066 and terminating 21 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). Y1066Wfs*21 has not been characterized, however, due to loss of 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 Y1066Wfs*21

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Transcript NM_000179.3
gDNA chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA
cDNA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA
Protein p.Y1066Wfs*21
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47803443_47803444insGCCCCCCCCCCCCCCCCCCGAAA c.3196_3197insGCCCCCCCCCCCCCCCCCCGAAA p.Y1066Wfs*21 RefSeq GRCh38/hg38

Filtering

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  • 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 )
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MSH6 Y1066Wfs*21 loss of function - predicted