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 | Q3038* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM Q3038* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365449C>T |
cDNA | c.9112C>T |
Protein | p.Q3038* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017789 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108365449C>T | c.9112C>T | p.Q3038* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|