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Gene | ATR |
Variant | H2153R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATR H2153R lies within the FAT domain of the Atr protein (UniProt.org). H2153R has been identified in sequencing studies (PMID: 24755471), 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 H2153R |
Transcript | NM_001184.4 |
gDNA | chr3:g.142469431T>C |
cDNA | c.6458A>G |
Protein | p.H2153R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184 | chr3:g.142469431T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
XM_011512924.1 | chr3:g.142469437T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
XM_047448361.1 | chr3:g.142469437T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
XM_011512924 | chr3:g.142469437T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
XM_047448360.1 | chr3:g.142469437T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142469431T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
XM_011512924.2 | chr3:g.142469437T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142469431T>C | c.6458A>G | p.H2153R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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