Gene Variant Detail

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Gene ATM
Variant S2017fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S2017fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2017of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S2017f is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S2017fs

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Transcript NM_000051.3
gDNA chr11:g.(108315864_108315865)
cDNA c.(6049_6048)
Protein p.S2017fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271561 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017789 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_011542840 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_006718843 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
NM_000051 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017790 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017791 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_005271562 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_011542843 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108315864_108315865) c.(6049_6048) p.S2017fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References