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Gene | ATM |
Variant | R3008L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM R3008L does not lie within any known functional domains of the Atm protein (UniProt.org). R3008L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM R3008X ATM R3008L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365360G>T |
cDNA | c.9023G>T |
Protein | p.R3008L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006718843.5 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108365360G>T | c.9023G>T | p.R3008L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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