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Gene | ATR |
Variant | T2516I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR T2516I lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). T2516I has been identified in sequencing studies (PMID: 25759019), 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 T2516I |
Transcript | NM_001184.4 |
gDNA | chr3:g.142457712G>A |
cDNA | c.7547C>T |
Protein | p.T2516I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.4 | chr3:g.142457712G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
NM_001354579.2 | chr3:g.142453150G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142457712G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
XM_017006643 | chr3:g.142453150G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
NM_001354579.1 | chr3:g.142453150G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142457712G>A | c.7547C>T | p.T2516I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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