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 | L1465P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM L1465P does not lie within any known functional domains of the Atm protein (UniProt.org). L1465P results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM L1465P |
Transcript | NM_000051.4 |
gDNA | chr11:g.108289759T>C |
cDNA | c.4394T>C |
Protein | p.L1465P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017791 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542845 | chr11:g.108307923_108307924delTTinsCC | c.4393_4394delTTinsCC | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542845.2 | chr11:g.108307923_108307924delTTinsCC | c.4393_4394delTTinsCC | p.L1465P | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108289759T>C | c.4394T>C | p.L1465P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|