ATM R2506_N2543del - Gene Variant Detail

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Gene ATM
Variant R2506_N2543del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2506_N2543del results in the deletion of 38 amino acids in the FAT domain of the Atm protein from amino acids 2506 to 2543 (UniProt.org). R2506_N2543del results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R2506_N2543del

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Transcript NM_000051.4
gDNA chr11:g.108331444_108331557del114
cDNA c.7516_7629del114
Protein p.R2506_N2543del38
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.4 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_047426978.1 chr11:g.108331930_108332767del838 c.7516_7629del838 p.L2506_R2543del38 RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_047426977.1 chr11:g.108331930_108332767del838 c.7516_7629del838 p.L2506_R2543del38 RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_005271561 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_047426979.1 chr11:g.108331930_108332767del838 c.7516_7629del838 p.L2506_R2543del38 RefSeq GRCh38/hg38
XM_017017790 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542842.4 chr11:g.108331930_108332767del838 c.7516_7629del838 p.L2506_R2543del38 RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
NM_000051 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_005271562 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542843 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542844.4 chr11:g.108345884_108353767del7884 c.7516_7629del7884 p.R2506_G2543del38 RefSeq GRCh38/hg38
XM_006718843 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_017017789 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del38 RefSeq GRCh38/hg38
XM_011542840 chr11:g.108331444_108331557del114 c.7516_7629del114 p.R2506_N2543del 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