Gene Detail

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Gene Symbol ATR
Synonyms FCTCS | FRP1 | MEC1 | SCKL | SCKL1
Gene Description ATR, ATR serine/threonine kinase, is involved in regulation of the DNA damage response and mediation of cell-cycle checkpoints (PMID: 25512053). Loss of function ATR mutations have been identified in melanoma (PMID: 28273450), and inhibition of Atr selectively sensitizes cancerous cells to radiation and chemotherapy (PMID: 23583268, PMID: 31836456, PMID: 29054375).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
545 3 3q23 NM_001184 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
F676fs frameshift loss of function - predicted ATR F676fs results in a change in the amino acid sequence of the Atr protein beginning at aa 676 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), F676fs is predicted to lead to a loss of Atr protein function.
I774fs frameshift loss of function - predicted ATR I774fs results in a change in the amino acid sequence of the Atr protein beginning at aa 774 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), I774fs is predicted to lead to a loss of Atr protein function.
inact mut unknown loss of function ATR inact mut indicates that this variant results in a loss of function of the Atr protein. However, the specific amino acid change has not been identified.
K771fs frameshift loss of function - predicted ATR K771fs results in a change in the amino acid sequence of the Atr protein beginning at aa 771 of 2644, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), K771fs is predicted to lead to a loss of Atr protein function.
mutant unknown unknown ATR mutant indicates an unspecified mutation in the ATR gene.