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Gene | ATM |
Variant | R2506_N2543del |
Impact List | deletion |
Protein Effect | loss of function |
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 in culture (PMID: 23585524). |
Associated Drug Resistance |
Transcript | NM_000051.3 |
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 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_017017789 | 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_N2543del38 | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_011542844 | chr11:g.108345884_108353767del7884 | c.7516_7629del7884 | p.R2506_G2543del38 | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_011542842 | chr11:g.108331930_108332767del838 | c.7516_7629del838 | p.L2506_R2543del38 | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_011542844.3 | chr11:g.108345884_108353767del7884 | c.7516_7629del7884 | p.R2506_G2543del38 | RefSeq | GRCh38/hg38 |
XM_011542842.3 | chr11:g.108331930_108332767del838 | c.7516_7629del838 | p.L2506_R2543del38 | RefSeq | GRCh38/hg38 |
XM_011542840.3 | 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_N2543del38 | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_011542845 | chr11:g.108354849_108365169del10321 | c.7517_7630del10321 | p.Q2506_E2543del38 | RefSeq | GRCh38/hg38 |
XM_011542845.2 | chr11:g.108354849_108365169del10321 | c.7517_7630del10321 | p.Q2506_E2543del38 | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108331444_108331557del114 | c.7516_7629del114 | p.R2506_N2543del38 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM R2506_N2543del | loss of function | PARP Inhibitor (Pan) |