Gene Variant Detail

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Gene ATM
Variant R2547_S2549del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions ATM R2547_S2549del results in the deletion of three amino acids in the FAT domain of the Atm protein from amino acids 2547 to 2549 (UniProt.org). R2547_S2549del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R2547_S2549del

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Transcript NM_000051.3
gDNA chr11:g.108331889_108331897delGAATTTCAA
cDNA c.7640_7648delGAATTTCAA
Protein p.R2547_S2549delRIS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542842 chr11:g.108332777_108332785delGCAAATAGA c.7639_7647delGCAAATAGA p.A2547_R2549delANR RefSeq GRCh38/hg38
XM_011542845.2 chr11:g.108365178_108365186delACTCTGAAT c.7639_7647delACTCTGAAT p.T2547_N2549delTLN RefSeq GRCh38/hg38
XM_017017789 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542844.3 chr11:g.108353777_108353785delGAACAGGGC c.7639_7647delGAACAGGGC p.E2547_G2549delEQG RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_017017790 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
NM_000051 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_005271561 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_005271562 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542845 chr11:g.108365178_108365186delACTCTGAAT c.7639_7647delACTCTGAAT p.T2547_N2549delTLN RefSeq GRCh38/hg38
XM_011542844 chr11:g.108353777_108353785delGAACAGGGC c.7639_7647delGAACAGGGC p.E2547_G2549delEQG RefSeq GRCh38/hg38
XM_011542840 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108332777_108332785delGCAAATAGA c.7639_7647delGCAAATAGA p.A2547_R2549delANR RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542843 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_006718843 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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