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Gene | ATM |
Variant | F168L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM F168L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108243958T>C |
cDNA | c.502T>C |
Protein | p.F168L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.5 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108243958T>C | c.502T>C | p.F168L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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