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Gene ATR
Variant R2514C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATR R2514C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2514C has been identified in sequencing studies (PMID: 30239046, PMID: 26950094, PMID: 26343386), 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 R2514C

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Transcript NM_001184.4
gDNA chr3:g.142457719G>A
cDNA c.7540C>T
Protein p.R2514C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001184 chr3:g.142457719G>A c.7540C>T p.R2514C RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142457719G>A c.7540C>T p.R2514C RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142457719G>A c.7540C>T p.R2514C RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References