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Gene | ATR |
Variant | L2593I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR L2593I |
Transcript | NM_001184.4 |
gDNA | chr3:g.142449587G>T |
cDNA | c.7777C>A |
Protein | p.L2593I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.3 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142449587G>T | c.7777C>A | p.L2593I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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