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Gene | ATR |
Variant | L2076V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR L2076V lies within the FAT domain of the Atr protein (UniProt.org). L2076V has been identified in sequencing studies (PMID: 27997549), 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 L2076V |
Transcript | NM_001184.4 |
gDNA | chr3:g.142470179G>C |
cDNA | c.6226C>G |
Protein | p.L2076V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.4 | chr3:g.142470179G>C | c.6226C>G | p.L2076V | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142470179G>C | c.6226C>G | p.L2076V | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142470179G>C | c.6226C>G | p.L2076V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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