Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
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@genomenon.com
Gene | ATM |
Variant | L1322I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM L1322I does not lie within any known functional domains of the Atm protein (UniProt.org). L1322I results in Atm expression and phosphorylation levels of Atm and downstream targets similar to wild-type Atm in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L1322I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108284444C>A |
cDNA | c.3964C>A |
Protein | p.L1322I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108284444C>A | c.3964C>A | p.L1322I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|