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_000051.4
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
NM_001351834.1 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108332777_108332785delGCAAATAGA c.7639_7647delGCAAATAGA p.A2547_R2549delANR RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_005271561 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_011542844.4 chr11:g.108353777_108353785delGAACAGGGC c.7639_7647delGAACAGGGC p.E2547_G2549delEQG RefSeq GRCh38/hg38
XM_005271562 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_017017790 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108332777_108332785delGCAAATAGA c.7639_7647delGCAAATAGA p.A2547_R2549delANR RefSeq GRCh38/hg38
NM_000051 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_011542842.4 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_S2549del RefSeq GRCh38/hg38
XM_011542840 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_017017789 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
XM_011542843 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_006718843 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108332777_108332785delGCAAATAGA c.7639_7647delGCAAATAGA p.A2547_R2549delANR RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS RefSeq GRCh38/hg38
NM_000051.4 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_S2549del RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549del RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108331889_108331897delGAATTTCAA c.7640_7648delGAATTTCAA p.R2547_S2549delRIS 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

  • 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