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Gene Symbol ATRX
Synonyms JMS | MRX52 | RAD54 | RAD54L | XH2 | XNP | ZNF-HX
Gene Description ATRX, ATRX chromatin remodeler, is in the SWI/SNF family of chromatin remodeling proteins and plays a role in DNA repair and telomere length. ATRX loss and mutations have been identified in a high percentage of tumor types including glioma (PMID: 23249563; PMID: 26936505, PMID: 31908895) and copy number loss has also been observed in pancreatic neuroendocrine tumors (PMID: 30081149) and ovarian ependymomas (PMID: 29944970).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1690D missense unknown ATRX A1690D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). A1690D has been identified in sequencing studies (PMID: 22416102), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
A507D missense unknown ATRX A507D does not lie within any known functional domains of the Atrx protein (UniProt.org). A507D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
A535fs frameshift loss of function - predicted ATRX A535fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 535 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), A535fs is predicted to lead to a loss of Atrx protein function.
C1590Y missense unknown ATRX C1590Y lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). C1590Y has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
C220W missense unknown ATRX C220W lies within the ADD domain of the Atrx protein (UniProt.org). C220W has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1058Y missense unknown ATRX D1058Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D1058Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1222N missense unknown ATRX D1222N lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1222N has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1247H missense unknown ATRX D1247H lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1247H has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1263E missense unknown ATRX D1263E lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1263E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1383A missense unknown ATRX D1383A does not lie within any known functional domains of the Atrx protein (UniProt.org). D1383A has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1487N missense unknown ATRX D1487N does not lie within any known functional domains of the Atrx protein (UniProt.org). D1487N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1615G missense unknown ATRX D1615G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1615G has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D163Y missense unknown ATRX D163Y lies within the ADD domain of the Atrx protein (UniProt.org). D163Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D1719G missense unknown ATRX D1719G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1719G has been identified in sequencing studies (PMID: 24148618), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D2004Y missense unknown ATRX D2004Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2004Y has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D2136N missense unknown ATRX D2136N lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). D2136N has been identified in sequencing studies (PMID: 12673795, PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
D214A missense loss of function - predicted ATRX D214A lies within the ADD domain of the Atrx protein (UniProt.org). D214A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to result in a loss of Atrx protein function.
D217A missense loss of function - predicted ATRX D217A lies within the ADD domain of the Atrx protein (UniProt.org). D217A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to result in a loss of Atrx protein function.
D2326Y missense unknown ATRX D2326Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2326Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D2352Y missense unknown ATRX D2352Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2352Y has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D547N missense unknown ATRX D547N does not lie within any known functional domains of the Atrx protein (UniProt.org). D547N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
D774fs frameshift loss of function - predicted ATRX D774fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 774 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), D774fs is predicted to lead to a loss of Atrx protein function.
del deletion loss of function ATRX del indicates a deletion of the ATRX gene.
E1010fs frameshift loss of function - predicted ATRX E1010fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1010 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1010fs is predicted to lead to a loss of Atrx protein function.
E1365A missense unknown ATRX E1365A does not lie within any known functional domains of the Atrx protein (UniProt.org). E1365A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E1446* nonsense loss of function - predicted ATRX E1446* results in a premature truncation of the Atrx protein at amino acid 1446 of 2492 (UniProt.org). Due to the loss of the Helicase domains (UniProt.org), E1446* is predicted to lead to a loss of Atrx protein function.
E1463K missense unknown ATRX E1463K does not lie within any known functional domains of the Atrx protein (UniProt.org). E1463K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E1547* nonsense loss of function - predicted ATRX E1547* results in a premature truncation of the Atrx protein at amino acid 1547 of 2492 (UniProt.org). Due to the loss of the Helicase domains (UniProt.org), E1547* is predicted to lead to a loss of trx protein function.
E1547G missense unknown ATRX E1547G does not lie within any known functional domains of the Atrx protein (UniProt.org). E1547G has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E1757Q missense unknown ATRX E1757Q lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). E1757Q has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
E2172A missense unknown ATRX E2172A lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E2172G missense unknown ATRX E2172G lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172G has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E555* nonsense loss of function - predicted ATRX E555* results in a premature truncation of the Atrx protein at amino acid 555 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E555* is predicted to lead to a loss of Atrx protein function.
E607K missense unknown ATRX E607K does not lie within any known functional domains of the Atrx protein (UniProt.org). E607K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, May 2020).
E853D missense unknown ATRX E853D does not lie within any known functional domains of the Atrx protein (UniProt.org). E853D has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
E991fs frameshift loss of function - predicted ATRX E991fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 991 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E991fs is predicted to lead to a loss of Atrx protein function.
F1384L missense unknown ATRX F1384L does not lie within any known functional domains of the Atrx protein (UniProt.org). F1384L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
F1570C missense unknown ATRX F1570C does not lie within any known functional domains of the Atrx protein (UniProt.org). F1570C has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
F2102C missense unknown ATRX F2102C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). F2102C has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
F2113Lfs*10 frameshift unknown ATRX F2113Lfs*10 indicates a shift in the reading frame starting at amino acid 2113 and terminating 10 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). F2113Lfs*10 has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
F2113Sfs*9 frameshift unknown ATRX F2113Sfs*9 indicates a shift in the reading frame starting at amino acid 2113 and terminating 9 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). F2113Sfs*9 has been identified in the scientific literature (PMID: 21252315), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
fusion fusion unknown ATRX fusion indicates a fusion of the ATRX gene, but the fusion partner is unknown.
G1071R missense unknown ATRX G1071R does not lie within any known functional domains of the Atrx protein (UniProt.org). G1071R has been identified in the scientific literature (PMID: 30709382, PMID: 30404791, PMID: 27150160), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Jun 2020).
G1567D missense unknown ATRX G1567D does not lie within any known functional domains of the Atrx protein (UniProt.org). G1567D has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
G1589E missense unknown ATRX G1589E lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). G1589E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
G2110* nonsense unknown ATRX G2110* results in a premature truncation of the Atrx protein at amino acid 2110 of 2492 (UniProt.org). G2110* has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jun 2020).
G2120E missense unknown ATRX G2120E lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). G2120E has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
G2169E missense unknown ATRX G2169E lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). G2169E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
G249D missense loss of function ATRX G249D lies within the ADD domain of the Atrx protein (UniProt.org). G249D demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and loss of heterochromatic localization in fluorescence microscopy (PMID: 21421568).
H2260N missense unknown ATRX H2260N lies within the MECP2-interacting region of the Atrx protein (UniProt.org). H2260N has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
H406D missense unknown ATRX H406D does not lie within any known functional domains of the Atrx protein (UniProt.org). H406D has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
H865Q missense unknown ATRX H865Q does not lie within any known functional domains of the Atrx protein (UniProt.org). H865Q has been identified in sequencing studies (PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Jun 2020).
I1049* nonsense loss of function - predicted ATRX I1049* results in a premature truncation of the Atrx protein at amino acid 1049 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1049* is predicted to lead to a loss of Atrx protein function.
I1049Kfs*69 frameshift loss of function - predicted ATRX I1049Kfs*69 indicates a shift in the reading frame starting at amino acid 1049 and terminating 69 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1049Kfs*69 is predicted to lead to a loss of Atrx protein function.
I1049Nfs*4 frameshift loss of function - predicted ATRX I1049Nfs*4 indicates a shift in the reading frame starting at amino acid 1049 and terminating 4 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I1049Nfs*4 is predicted to lead to a loss of Atrx protein function.
I1784S missense unknown ATRX I1784S does not lie within any known functional domains of the Atrx protein (UniProt.org). I1784S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
I2026T missense unknown ATRX I2026T lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). I2026T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
I209A missense loss of function - predicted ATRX I209A lies within the ADD domain of the Atrx protein (UniProt.org). I209A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to result in a loss of Atrx protein function.
I360Rfs*6 frameshift loss of function - predicted ATRX I360Rfs*6 indicates a shift in the reading frame starting at amino acid 1360 and terminating 6 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), I360Rfs*6 is predicted to lead to a loss of Atrx protein function.
I402N missense unknown ATRX I402N does not lie within any known functional domains of the Atrx protein (UniProt.org). I402N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
I528M missense unknown ATRX I528M does not lie within any known functional domains of the Atrx protein (UniProt.org). I528M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
inact mut unknown loss of function ATRX inact mut indicates that this variant results in a loss of function of the Atrx protein. However, the specific amino acid change has not been identified.
K1001fs frameshift loss of function - predicted ATRX K1001fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1001 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1001fs is predicted to lead to a loss of Atrx protein function.
K1045* nonsense loss of function - predicted ATRX K1045* results in a premature truncation of the Atrx protein at amino acid 1045 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1045* is predicted to lead to a loss of Atrx protein function.
K1300R missense unknown ATRX K1300R lies within the DAXX-interacting region of the Atrx protein (UniProt.org). K1300R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K1420T missense unknown ATRX K1420T does not lie within any known functional domains of the Atrx protein (UniProt.org). K1420T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K1600N missense unknown ATRX K1600N lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). K1600N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K1650N missense loss of function ATRX K1650N lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). K1650N results in reduced ATPase activity of Atrx and impaired DNA translocation in cell culture (PMID: 21505078).
K1931fs frameshift loss of function - predicted ATRX K1931fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 1931 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase C-terminal domain (UniProt.org), K1931fs is predicted to lead to a loss of Atrx protein function.
K2019E missense unknown ATRX K2019E lies within the MECP2-interacting region of the Atrx protein (UniProt.org). K2019E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K2182R missense unknown ATRX K2182R lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). K2182R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K2272R missense unknown ATRX K2272R lies within the MECP2-interacting region of the Atrx protein (UniProt.org). K2272R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
K425fs frameshift loss of function - predicted ATRX K425fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 425 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K425fs is predicted to lead to a loss of Atrx protein function.
K46T missense unknown ATRX K46T does not lie within any known functional domains of the Atrx protein (UniProt.org). K46T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically chracterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
K923N missense unknown ATRX K923N does not lie within any known functional domains of the Atrx protein (UniProt.org). K923N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L1592F missense unknown ATRX L1592F lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1592F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L1612P missense unknown ATRX L1612P lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1612P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L1612V missense unknown ATRX L1612V lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1612V has been identified in sequencing studies (PMID: 30196423), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
L1879V missense unknown ATRX L1879V does not lie within any known functional domains of the Atrx protein (UniProt.org). L1879V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
L192S missense unknown ATRX L192S lies within the ADD domain of the Atrx protein (UniProt.org). L192S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
L2027P missense unknown ATRX L2027P lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). L2027P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
L276V missense unknown ATRX L276V lies within the ADD domain of the Atrx protein (UniProt.org). L276V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L346P missense unknown ATRX L346P does not lie within any known functional domains of the Atrx protein (UniProt.org). L346P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L407F missense unknown ATRX L407F does not lie within any known functional domains of the Atrx protein (UniProt.org). L407F has been identified in sequencing studies (PMID: 24710217, PMID: 22416102, PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
L595F missense unknown ATRX L595F does not lie within any known functional domains of the Atrx protein (UniProt.org). L595F has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
L639fs frameshift loss of function - predicted ATRX L639fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 639 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), L639fs is predicted to lead to a loss of Atrx protein function.
loss unknown loss of function ATRX loss indicates loss of the ATRX gene, mRNA, and protein.
M1596I missense unknown ATRX M1596I lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). M1596I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
M1800fs frameshift loss of function - predicted ATRX M1800fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1800 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase domain, P-box, and glutamine rich region, all required for transcriptional regulation, M1800fs is predicted to result in a loss of function (PMID: 9545503).
mutant unknown unknown ATRX mutant indicates an unspecified mutation in the ATRX gene.
N1753D missense unknown ATRX N1753D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1753D has been identified in sequencing studies (PMID: 30075702), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
N1763I missense unknown ATRX N1763I lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1763I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
N1763K missense unknown ATRX N1763K lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1763K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
N2125S missense unknown ATRX N2125S lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). N2125S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
N247S missense unknown ATRX N247S lies within the ADD domain of the Atrx protein (UniProt.org). N247S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
P1228S missense unknown ATRX P1228S lies within the DAXX-interacting region of the Atrx protein (UniProt.org). P1228S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
P1750R missense unknown ATRX P1750R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). P1750R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
P1829L missense unknown ATRX P1829L does not lie within any known functional domains of the Atrx protein (UniProt.org). P1829L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
P1886L missense unknown ATRX P1886L does not lie within any known functional domains of the Atrx protein (UniProt.org). P1886L has been identified in sequencing studies (PMID: 27997549, PMID: 25608029), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
P449L missense unknown ATRX P449L does not lie within any known functional domains of the Atrx protein (UniProt.org). P449L has been identified in sequencing studies (PMID: 30287485), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
P83L missense unknown ATRX P83L does not lie within any known functional domains of the Atrx protein (UniProt.org). P83L has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
Q1603R missense unknown ATRX Q1603R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). Q1603R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
Q1843H missense unknown ATRX Q1843H does not lie within any known functional domains of the Atrx protein (UniProt.org). Q1843H has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
Q539R missense unknown ATRX Q539R does not lie within any known functional domains of the Atrx protein (UniProt.org). Q539R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1302Efs*44 frameshift loss of function - predicted ATRX R1302Efs*44 indicates a shift in the reading frame starting at amino acid 1302 and terminating 44 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of Helicase domains (UniProt.org), R1302Efs*44 is predicted to lead to a loss of Atrx protein function.
R1302fs frameshift loss of function - predicted ATRX R1302fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1302 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R1302fs is predicted to lead to a loss of Atrx protein function.
R1302Kfs*7 frameshift loss of function - predicted ATRX R1302Kfs*7 indicates a shift in the reading frame starting at amino acid 1302 and terminating 7 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of Helicase domains (UniProt.org), R1302Kfs*7 is predicted to lead to a loss of Atrx protein function.
R1302Lfs*43 frameshift loss of function - predicted ATRX R1302Lfs*43 indicates a shift in the reading frame starting at amino acid 1302 and terminating 43 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of Helicase domains (UniProt.org), R1302Lfs*43 is predicted to lead to a loss of Atrx protein function.
R1302Nfs*6 frameshift loss of function - predicted ATRX R1302Nfs*6 indicates a shift in the reading frame starting at amino acid 1302 and terminating 6 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302Nfs*6 is predicted to lead to a loss of Atrx protein function.
R1371T missense unknown ATRX R1371T does not lie within any known functional domains of the Atrx protein (UniProt.org). R1371T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1417L missense unknown ATRX R1417L does not lie within any known functional domains of the Atrx protein (UniProt.org). R1417L has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1426* nonsense loss of function - predicted ATRX R1426* results in a premature truncation of the Atrx protein at amino acid 1426 of 2492 (UniProt.org). Due to the loss of the helicase domains (UniProt.org), R1426* is predicted to lead to a loss of Atrx protein function.
R1427H missense unknown ATRX R1427H does not lie within any known functional domains of the Atrx protein (UniProt.org). R1427H has been identified in sequencing studies (PMID: 29296220), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1742G missense unknown ATRX R1742G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). R1742G has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1742S missense unknown ATRX R1742S lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). R1742S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R1803C missense unknown ATRX R1803C does not lie within any known functional domains of the Atrx protein (UniProt.org). R1803C has been identified in sequencing studies (PMID: 24710217), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
R2079* nonsense unknown ATRX R2079* results in a premature truncation of the Atrx protein at amino acid 2079 of 2492 (UniProt.org). R2079* has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2085P missense unknown ATRX R2085P lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2085P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2109I missense unknown ATRX R2109I lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2109I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2111* nonsense unknown ATRX R2111* results in a premature truncation of the Atrx protein at amino acid 2111 of 2492 (UniProt.org). R2111* has been identified in sequencing studies (PMID: 24705251), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2153C missense unknown ATRX R2153C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2153C has been identified in sequencing studies (PMID: 22869205, PMID: 28423505), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
R2164S missense unknown ATRX R2164S lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2164S has been identified in sequencing studies (PMID: 25743702, PMID: 29058986), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
R2188Q missense unknown ATRX R2188Q lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2188Q has been identified in sequencing studies (PMID: 22416102, PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2197C missense unknown ATRX R2197C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2197C has been identified in sequencing studies (PMID: 25257301), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R221K missense unknown ATRX R221K lies within the ADD domain of the Atrx protein (UniProt.org). R221K has been identified in sequencing studies (PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R2271Kfs*14 frameshift unknown ATRX R2271Kfs*14 indicates a shift in the reading frame starting at amino acid 2271 and terminating 14 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). R2271Kfs*14 has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R246C missense loss of function - predicted ATRX R246C lies within the ADD domain of the Atrx protein (UniProt.org). R246C demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to result in a loss of Atrx protein function.
R246H missense unknown ATRX R246H lies within the ADD domain of the Atrx protein (UniProt.org). R246H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R246L missense loss of function - predicted ATRX R246L lies within the ADD domain of the Atrx protein (UniProt.org). R246L demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to result in a loss of Atrx protein function.
R418* nonsense loss of function - predicted ATRX R418* results in a premature truncation of the Atrx protein at amino acid 418 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R418* is predicted to lead to a loss of Atrx protein function.
R444Q missense unknown ATRX R444Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R444Q has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R781* nonsense loss of function - predicted ATRX R781* results in a premature truncation of the Atrx protein at amino acid 781 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R781* is predicted to lead to a loss of Atrx protein function.
R78Q missense unknown ATRX R78Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R78Q has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R808* nonsense loss of function - predicted ATRX R808* results in a premature truncation of the Atrx protein at amino acid 808 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R808* is predicted to lead to a loss of Atrx protein function.
R81M missense unknown ATRX R81M does not lie within any known functional domains of the Atrx protein (UniProt.org). R81M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
R840fs frameshift loss of function - predicted ATRX R840fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 840 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase domain, P-box, and glutamine rich region, all required for transcriptional regulation, R840fs is predicted to result in a loss of function (PMID: 9545503).
R907* nonsense loss of function - predicted ATRX R907* results in a premature truncation of the Atrx protein at amino acid 907 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R907* is predicted to lead to a loss of Atrx protein function.
R907Dfs*63 frameshift loss of function - predicted ATRX R907Dfs*63 indicates a shift in the reading frame starting at amino acid 907 and terminating 63 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R907Dfs*63 is predicted to lead to a loss of Atrx protein function.
S1046I missense unknown ATRX S1046I does not lie within any known functional domains of the Atrx protein (UniProt.org). S1046I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
S1792Y missense unknown ATRX S1792Y does not lie within any known functional domains of the Atrx protein (UniProt.org). S1792Y has been identified in sequencing studies (PMID: 26692951), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
S2138F missense unknown ATRX S2138F lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). S2138F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
S342F missense unknown ATRX S342F does not lie within any known functional domains of the Atrx protein (UniProt.org). S342F has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
S458* nonsense loss of function - predicted ATRX S458* results in a premature truncation of the Atrx protein at amino acid 458 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S458* is predicted to lead to a loss of Atrx protein function.
S576L missense unknown ATRX S576L does not lie within any known functional domains of the Atrx protein (UniProt.org). S576L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
T1582fs frameshift unknown ATRX T1582fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1582 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). T1582fs has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
T1928K missense unknown ATRX T1928K does not lie within any known functional domains of the Atrx protein (UniProt.org). T1928K has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
T899M missense unknown ATRX T899M does not lie within any known functional domains of the Atrx protein (UniProt.org). T899M has been identified in sequencing studies (PMID: 25550361), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
V128A missense unknown ATRX V128A does not lie within any known functional domains of the Atrx protein (UniProt.org). V128A has been identified in sequencing studies (PMID: 25848751), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Sep 2020).
V15G missense unknown ATRX V15G does not lie within any known functional domains of the Atrx protein (UniProt.org). V15G has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
V277A missense unknown ATRX V277A lies within the ADD domain of the Atrx protein (UniProt.org). V277A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
W263R missense unknown ATRX W263R lies within the ADD domain of the Atrx protein (UniProt.org). W263R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).
wild-type none no effect Wild-type ATRX indicates that no mutation has been detected within the ATRX gene.
Y203A missense loss of function ATRX Y203A lies within the ADD domain of the Atrx protein (UniProt.org). Y203A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays and pull down experiments respectively (PMID: 21421568, PMID: 21666679) and loss of heterochromatic localization in fluorescence microscopy (PMID: 21421568).
Y204A missense loss of function - predicted ATRX Y204A lies within the ADD domain of the Atrx protein (UniProt.org). Y204A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays and pull down experiments respectively (PMID: 21421568, PMID: 21666679), and therefore, is predicted to result in a loss of Atrx protein function.
Y266N missense unknown ATRX Y266N lies within the ADD domain of the Atrx protein (UniProt.org). Y266N has not been characterized in the scientific literature, and therefore its effect on Atrx protein function is unknown (PubMed, Sep 2020).
Y89F missense unknown ATRX Y89F does not lie within any known functional domains of the Atrx protein (UniProt.org). Y89F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Aug 2020).