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Gene | ATM |
Variant | D1853N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM D1853N |
Transcript | NM_000051.4 |
gDNA | chr11:g.108304735G>A |
cDNA | c.5557G>A |
Protein | p.D1853N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108304735G>A | c.5557G>A | p.D1853N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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