Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ATR |
Variant | E91* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATR E91* results in a premature truncation of the Atr protein at amino acid 91 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), E91* is predicted to lead to a loss of Atr protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR inact mut ATR E91* |
Transcript | NM_001184.4 |
gDNA | chr3:g.142566142C>A |
cDNA | c.271G>T |
Protein | p.E91* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184.3 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512926 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
NM_001354579.2 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_047448364.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_047448362.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512925 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_047448363.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_047448361.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_047448360.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512924.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512924 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512925.2 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512924.2 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_017006643 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
NM_001354579.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
XM_011512925.1 | chr3:g.142566142C>A | c.271G>T | p.E91* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|