Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ATM |
Variant | E522* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). E522* has not been characterized, however, due to the effects of other truncation mutations downstream of E522 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM E522* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108251029G>T |
cDNA | c.1564G>T |
Protein | p.E522* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.5 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542845.2 | chr11:g.108271097G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542845 | chr11:g.108271097G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108251029G>T | c.1564G>T | p.E522* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM E522* | loss of function - predicted | Olaparib |