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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).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1896D missense unknown ATR A1896D lies within the FAT domain of the Atr protein (UniProt.org). A1896D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
A1896T missense unknown ATR A1896T lies within the FAT domain of the Atr protein (UniProt.org). A1896T has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
A1934D missense unknown ATR A1934D lies within the FAT domain of the Atr protein (UniProt.org). A1934D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
A2002G missense unknown ATR A2002G lies within the FAT domain of the Atr protein (UniProt.org). A2002G has been identified in sequencing studies (PMID: 29681454, PMID: 17344846, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
A2165V missense unknown ATR A2165V lies within the FAT domain of the Atr protein (UniProt.org). A2165V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
amp none no effect ATR amplification indicates an increased number of copies of the ATR gene. However, the mechanism causing the increase is unspecified.
C347* nonsense loss of function - predicted ATR C347* results in a premature truncation of the Atr protein at amino acid 347 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C347* is predicted to lead to a loss of Atr protein function.
D1380Y missense unknown ATR D1380Y does not lie within any known functional domains of the Atr protein (UniProt.org). D1380Y has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
D1470N missense unknown ATR D1470N does not lie within any known functional domains of the Atr protein (UniProt.org). D1470N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
D155E missense unknown ATR D155E does not lie within any known functional domains of the Atr protein (UniProt.org). D155E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
D1560N missense unknown ATR D1560N does not lie within any known functional domains of the Atr protein (UniProt.org). D1560N has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
D2118N missense unknown ATR D2118N lies within the FAT domain of the Atr protein (UniProt.org). D2118N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
D2331Y missense unknown ATR D2331Y lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2331Y has been identified in the scientific literature (PMID: 30957057, PMID: 29530932), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
D2494E missense loss of function ATR D2494E lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2494E results in a loss of Atr autophosphorylation and Atr-mediated phosphorylation of p53 and c-jun in cell culture (PMID: 10597277).
D983N missense unknown ATR D983N does not lie within any known functional domains of the Atr protein (UniProt.org). D983N has been identified in sequencing studies (PMID: 27149842, PMID: 25344691, PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
dec exp none no effect ATR dec exp indicates decreased expression of the Atr protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function ATR del indicates a deletion of the ATR gene.
E1059* nonsense loss of function - predicted ATR E1059* results in a premature truncation of the Atr protein at amino acid 1059 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1059* is predicted to lead to a loss of Atr protein function.
E1229* nonsense loss of function - predicted ATR E1229* results in a premature truncation of the Atr protein at amino acid 1229 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1229* is predicted to lead to a loss of Atr protein function.
E1375G missense unknown ATR E1375G does not lie within any known functional domains of the Atr protein (UniProt.org). E1375G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E1602D missense unknown ATR E1602D does not lie within any known functional domains of the Atr protein (UniProt.org). E1602D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E2011K missense unknown ATR E2011K lies within the FAT domain of the Atr protein (UniProt.org). E2011K has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E2103A missense unknown ATR E2103A lies within the FAT domain of the Atr protein (UniProt.org). E2103A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E2378V missense unknown ATR E2378V lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). E2378V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E254G missense unknown ATR E254G does not lie within any known functional domains of the Atr protein (UniProt.org). E254G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
E2626* nonsense unknown ATR E2626* results in a premature truncation of the Atr protein at amino acid 2626 of 2644 (UniProt.org). E2626* has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
E91* nonsense loss of function - predicted ATR E91* results in a premature truncation of the Atr protein at amino acid 91 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E91* is predicted to lead to a loss of Atr protein function.
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 all known functional domains (UniProt.org), F676fs is predicted to lead to a loss of Atr protein function.
F732L missense unknown ATR F732L does not lie within any known functional domains of the Atr protein (UniProt.org). F732L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
G1181C missense unknown ATR G1181C does not lie within any known functional domains of the Atr protein (UniProt.org). G1181C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
G1181F missense unknown ATR G1181F does not lie within any known functional domains of the Atr protein (UniProt.org). G1181F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
G1181S missense unknown ATR G1181S does not lie within any known functional domains of the Atr protein (UniProt.org). G1181S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
G1181V missense unknown ATR G1181V does not lie within any known functional domains of the Atr protein (UniProt.org). G1181V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
G2530C missense unknown ATR G2530C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). G2530C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
H2153R missense unknown 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, May 2022).
H2203N missense unknown ATR H2203N does not lie within any known functional domains of the Atr protein (UniProt.org). H2203N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
H4R missense unknown ATR H4R does not lie within any known functional domains of the Atr protein (UniProt.org). H4R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
H90Y missense unknown ATR H90Y does not lie within any known functional domains of the Atr protein (UniProt.org). H90Y has been identified in sequencing studies (PMID: 29793804, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
I1526V missense unknown ATR I1526V does not lie within any known functional domains of the Atr protein (UniProt.org). I1526V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
I1831S missense unknown ATR I1831S lies within the FAT domain of the Atr protein (UniProt.org). I1831S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
I1851V missense unknown ATR I1851V lies within the FAT domain of the Atr protein (UniProt.org). I1851V has been identified in sequencing studies (PMID: 24755471, PMID: 31513681), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
I219V missense unknown ATR I219V does not lie within any known functional domains of the Atr protein (UniProt.org). I219V has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
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 all known functional domains (UniProt.org), I774fs is predicted to lead to a loss of Atr protein function.
I774Nfs*3 frameshift loss of function - predicted ATR I774Nfs*3 indicates a shift in the reading frame beginning at amino acid 774 and terminating 3 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Nfs*3 is predicted to lead to a loss of Atr protein function.
I774Nfs*5 frameshift loss of function - predicted ATR I774Nfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Nfs*5 is predicted to lead to a loss of Atr protein function.
I774Yfs*5 frameshift loss of function - predicted ATR I774Yfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I774Yfs*5 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.
K2221E missense unknown ATR K2221E does not lie within any known functional domains of the Atr protein (UniProt.org). K2221E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
K2310N missense unknown ATR K2310N does not lie within any known functional domains of the Atr protein (UniProt.org). K2310N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
K297N missense unknown ATR K297N does not lie within any known functional domains of the Atr protein (UniProt.org). K297N has been identified in sequencing studies (PMID: 25528188, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
K764E missense unknown ATR K764E does not lie within any known functional domains of the Atr protein (UniProt.org). K764E has been identified in sequencing studies (PMID: 28522871, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
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 all known functional domains (UniProt.org), K771fs is predicted to lead to a loss of Atr protein function.
L1361* nonsense loss of function - predicted ATR L1361* results in a premature truncation of the Atr protein at amino acid 1361 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), L1361* is predicted to lead to a loss of Atr protein function.
L1361V missense unknown ATR L1361V lies within HEAT repeat 2 of the Atr protein (UniProt.org). L1361V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L1397M missense unknown ATR L1397M does not lie within any known functional domains of the Atr protein (UniProt.org). L1397M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
L1707I missense unknown ATR L1707I lies within the FAT domain of the Atr protein (UniProt.org). L1707I has been identified in sequencing studies (PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L1746I missense unknown ATR L1746I lies within the FAT domain of the Atr protein (UniProt.org). L1746I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L1834F missense unknown ATR L1834F lies within the FAT domain of the Atr protein (UniProt.org). L1834F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L2076V missense unknown ATR L2076V lies within the FAT domain of the Atr protein (UniProt.org). L2076V has been identified in sequencing studies (PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L2306F missense unknown ATR L2306F does not lie within any known functional domains of the Atr protein (UniProt.org). L2306F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
L2593I missense unknown ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
L298R missense unknown ATR L298R does not lie within any known functional domains of the Atr protein (UniProt.org). L298R has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
M211I missense unknown ATR M211I does not lie within any known functional domains of the Atr protein (UniProt.org). M211I has been identified in sequencing studies (PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
M211T missense unknown ATR M211T does not lie within any known functional domains of the Atr protein (UniProt.org). M211T has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
M328V missense unknown ATR M328V does not lie within any known functional domains of the Atr protein (UniProt.org). M328V has been identified in sequencing studies (PMID: 27248819), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
M335I missense unknown ATR M335I does not lie within any known functional domains of the Atr protein (UniProt.org). M335I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
mutant unknown unknown ATR mutant indicates an unspecified mutation in the ATR gene.
over exp none no effect ATR over exp indicates an over expression of the Atr protein. However, the mechanism causing the over expression is unspecified.
P1530Q missense unknown ATR P1530Q does not lie within any known functional domains of the Atr protein (UniProt.org). P1530Q has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
positive unknown unknown ATR positive indicates the presence of ATR gene, mRNA, and/or protein.
Q1732L missense unknown ATR Q1732L lies within the FAT domain of the Atr protein (UniProt.org). Q1732L has been identified in sequencing studies (PMID: 32982275), but has not been biochemically characterized and therefore, its effect on Akt1 protein function is unknown (PubMed, May 2022).
Q1845* nonsense loss of function - predicted ATR Q1845* results in a premature truncation of the Atr protein at amino acid 1845 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), Q1845* is predicted to lead to a loss of Atr protein function.
Q2635H missense unknown ATR Q2635H lies within the FATC domain of the Atr protein (UniProt.org). Q2635H has been identified in sequencing studies (PMID: 27502118), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
Q412* nonsense loss of function - predicted ATR Q412* results in a premature truncation of the Atr protein at amino acid 412 of 2644 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q412* is predicted to lead to a loss of Atr protein function.
R1015Q missense unknown ATR R1015Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1015Q has been identified in sequencing studies (PMID: 30239046, PMID: 30200630, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R1025C missense unknown ATR R1025C does not lie within any known functional domains of the Atr protein (UniProt.org). R1025C has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R109L missense unknown ATR R109L does not lie within any known functional domains of the Atr protein (UniProt.org). R109L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R109W missense unknown ATR R109W does not lie within any known functional domains of the Atr protein (UniProt.org). R109W has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R1183Q missense unknown ATR R1183Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1183Q has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R1201C missense unknown ATR R1201C does not lie within any known functional domains of the Atr protein (UniProt.org). R1201C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R1368* nonsense loss of function - predicted ATR R1368* results in a premature truncation of the Atr protein at amino acid 1368 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1368* is predicted to lead to a loss of Atr protein function.
R1412Q missense unknown ATR R1412Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1412Q has been identified in sequencing studies (PMID: 30181556, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R1503* nonsense loss of function - predicted ATR R1503* results in a premature truncation of the Atr protein at amino acid 1503 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1503* is predicted to lead to a loss of Atr protein function.
R1647C missense unknown ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R1724M missense unknown ATR R1724M lies within the FAT domain of the Atr protein (UniProt.org). R1724M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
R177Q missense unknown ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R1814Efs*10 frameshift loss of function - predicted ATR R1814Efs*10 indicates a shift in the reading frame beginning at amino acid 1814 and terminating ten residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), R1814Efs*10 is predicted to lead to a loss of Atr protein function.
R1814Kfs*8 frameshift loss of function - predicted ATR R1814Kfs*8 indicates a shift in the reading frame beginning at amino acid 1814 and terminating 8 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), R1814Kfs*8 is predicted to lead to a loss of Atr protein function.
R1886* nonsense loss of function - predicted ATR R1886* results in a premature truncation of the Atr protein at amino acid 1886 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain (UniProt.org), R1886* is predicted to lead to a loss of Atr protein function.
R1886Q missense unknown ATR R1886Q lies within the FAT domain of the Atr protein (UniProt.org). R1886Q has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R2356C missense unknown ATR R2356C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2356C has been identified in sequencing studies (PMID: 30239046, PMID: 25159915), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R2407C missense unknown ATR R2407C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407C has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R2407H missense unknown ATR R2407H lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407H has been identified in sequencing studies (PMID: 26845104, PMID: 24192927), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R2425Q missense unknown ATR R2425Q lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2425Q has been identified in the scientific literature (PMID: 31748433, PMID: 27693639), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R2514C missense unknown ATR R2514C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2514C has been identified in sequencing studies (PMID: 30239046, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R515H missense unknown ATR R515H does not lie within any known functional domains of the Atr protein (UniProt.org). R515H has been identified in sequencing studies (PMID: 30181556, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
R968I missense unknown ATR R968I does not lie within any known functional domains of the Atr protein (UniProt.org). R968I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
R989C missense unknown ATR R989C does not lie within any known functional domains of the Atr protein (UniProt.org). R989C has been identified in the sequencing studies (PMID: 27159395), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).
S1142G missense unknown ATR S1142G does not lie within any known functional domains of the Atr protein (UniProt.org). S1142G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
S1325C missense unknown ATR S1325C does not lie within any known functional domains of the Atr protein (UniProt.org). S1325C has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
S1325N missense unknown ATR S1325N does not lie within any known functional domains of the Atr protein (UniProt.org). S1325N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
S1645F missense unknown ATR S1645F lies within the FAT domain of the Atr protein (UniProt.org). S1645F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
S601F missense loss of function ATR S601F does not lie within any known functional domains of the Atr protein (UniProt.org). S601F confers a loss of function to the Atr protein as indicated by decreased Chk1 phosphorylation induced by UVB irradiation in culture (PMID: 28273450).
S684Y missense unknown ATR S684Y does not lie within any known functional domains of the Atr protein (UniProt.org). S684Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
S902Y missense unknown ATR S902Y does not lie within any known functional domains of the Atr protein (UniProt.org). S902Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
T1401A missense unknown ATR T1401A does not lie within any known functional domains of the Atr protein (UniProt.org). T1401A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
T2516I missense unknown 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, May 2022).
T2580N missense unknown ATR T2580N does not lie within any known functional domains of the Atr protein (UniProt.org). T2580N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
T541I missense unknown ATR T541I does not lie within any known functional domains of the Atr protein (UniProt.org). T541I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
V316I missense unknown ATR V316I does not lie within any known functional domains of the Atr protein (UniProt.org). V316I has been identified in sequencing studies (PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
V915A missense unknown ATR V915A does not lie within any known functional domains of the Atr protein (UniProt.org). V915A has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
V959M missense unknown ATR V959M does not lie within any known functional domains of the Atr protein (UniProt.org). V959M has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
W1591L missense unknown ATR W1591L does not lie within any known functional domains of the Atr protein (UniProt.org). W1591L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
W2035C missense unknown ATR W2035C lies within the FAT domain of the Atr protein (UniProt.org). W2035C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2022).
wild-type none no effect Wild-type ATR indicates that no mutation has been detected within the ATR gene.
Y1404* nonsense loss of function - predicted ATR Y1404* results in a premature truncation of the Atr protein at amino acid 1404 of 2644 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y1404* is predicted to lead to a loss of Atr protein function.
Y2132* nonsense loss of function - predicted ATR Y2132* results in a premature truncation of the Atr protein at amino acid 2132 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain (UniProt.org), Y2132* is predicted to lead to a loss of Atr protein function.
Y2132D missense unknown ATR Y2132D lies within the FAT domain of the Atr protein (UniProt.org). Y2132D has been identified in sequencing studies (PMID: 17344846, PMID: 25589003, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Jun 2022).
Y2637C missense unknown ATR Y2637C lies within the FATC domain of the Atr protein (UniProt.org). Y2637C has been identified in sequencing studies (PMID: 29884412, PMID: 25275298, PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2022).