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Gene | ATM |
Variant | F858L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM F858L does not lie within any known functional domains of the Atm protein (UniProt.org). F858L demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM F858L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108267276T>C |
cDNA | c.2572T>C |
Protein | p.F858L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542840 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108267276T>C | c.2572T>C | p.F858L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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