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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 (PMID: 36894374). 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, PMID: 25487495), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
A394Vfs*2 | frameshift | loss of function - predicted | ATRX A394Vfs*2 indicates a shift in the reading frame starting at amino acid 394 and terminating 2 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), A394Vfs*2 is predicted to lead to a loss of Atrx protein function. | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
D2004Y | missense | unknown | ATRX D2004Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2004Y has been identified in sequencing studies (PMID: 25344691, PMID: 29793804), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, PMID: 35323929), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). | |
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 lead to 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 lead to 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 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, Feb 2024). | |
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 helicase domains (UniProt.org), E1547* is predicted to lead to a loss of Atrx 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, Feb 2024). | |
E1684* | nonsense | loss of function - predicted | ATRX E1684* results in a premature truncation of the Atrx protein at amino acid 1684 of 2492 (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), E1684* is predicted to lead to a loss of Atrx protein function. | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
E2246K | missense | unknown | ATRX E2246K lies within the MECP2-interacting region of the Atrx protein (UniProt.org). E2246K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2024). | |
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, Dec 2023). | |
E853D | missense | unknown | ATRX E853D does not lie within any known functional domains of the Atrx protein (UniProt.org). E853D has been identified in sequencing studies (PMID: 31470906), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
F2199V | missense | unknown | ATRX F2199V lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). F2199V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2024). | |
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, Feb 2024). | |
G1567D | missense | unknown | ATRX G1567D does not lie within any known functional domains of the Atrx protein (UniProt.org). G1567D has been identified in the in the scientific literature (PMID: 32904945), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, PMID: 29990500), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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: 30668521, PMID: 25589003, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 lead to a loss of Atrx protein function. | |
I2133M | missense | unknown | ATRX I2133M lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). I2133M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
I360Rfs*6 | frameshift | loss of function - predicted | ATRX I360Rfs*6 indicates a shift in the reading frame starting at amino acid 360 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 Atrx 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). | |
K715* | nonsense | loss of function - predicted | ATRX K715* results in a premature truncation of the Atrx protein at amino acid 715 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K715* is predicted to lead to a loss of Atrx protein function. | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Mar 2024). | |
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, Mar 2024). | |
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, Mar 2024). | |
L2027R | missense | unknown | ATRX L2027R lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). L2027R has been identified in sequencing studies (PMID: 22492626, PMID: 36835815), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Dec 2023). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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 been identified in the scientific literature (PMID: 34527851), but not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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 C-terminal helicase domain (UniProt.org), M1800fs is predicted to lead to a loss of Atrx protein function. | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
negative | unknown | loss of function | ATRX negative indicates a lack of expression of the ATRX mRNA and/or protein. | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
Q929E | missense | unknown | ATRX Q929E does not lie within any known functional domains of the Atrx protein (UniProt.org). Q929E is a common polymorphism that leads to decreased cell senescence in cell culture (PMID: 23185534), but has not been fully biochemically characterized, and therefore, its effect on Atrx protein function is unknown. | |
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 helicase 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, Feb 2024). | |
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, Feb 2024). | |
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 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, Mar 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, PMID: 24703847), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). | |
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, PMID: 30733229), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, PMID: 33056981, PMID: 36541551), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, PMID: 23104868), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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 lead to 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, Mar 2024). | |
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 lead to 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 been identified in the scientific literature (PMID: 33946955), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024). | |
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. | |
R781Q | missense | unknown | ATRX R781Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R781Q has not been characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Dec 2023). | |
R78Q | missense | unknown | ATRX R78Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R78Q has been identified in sequencing studies (PMID: 29793804, PMID: 24807215), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2024). | |
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, Feb 2024). | |
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 most known functional domains (UniProt.org), R840fs is predicted to lead to a loss of Atrx protein function. | |
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, Feb 2024). | |
S1173L | missense | unknown | ATRX S1173L does not lie within any known functional domains of the Atrx protein (UniProt.org). S1173L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
T1582fs | frameshift | loss of function - predicted | 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). Due to the loss of helicase domains (UniProt.org), T1582fs is predicted to lead to a loss of Atrx protein function. | |
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, Feb 2024). | |
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, Mar 2024). | |
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, Mar 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
V939L | missense | unknown | ATRX V939L does not lie within any known functional domains of the Atrx protein (UniProt.org). V939L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Dec 2023). | |
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, Feb 2024). | |
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 (PMID: 21421568, PMID: 21666679), and therefore, is predicted to lead to 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, Mar 2024). | |
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, Feb 2024). |