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 | F1025L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM F1025L does not lie within any known functional domains of the Atm protein (UniProt.org). F1025L results in failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM F1025L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108271402T>C |
cDNA | c.3073T>C |
Protein | p.F1025L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542840.3 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108271402T>C | c.3073T>C | p.F1025L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|