Gene Detail

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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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Molecular Profile Protein Effect Treatment Approaches
ATRX A1690D unknown
ATRX A394Vfs*2 loss of function - predicted
ATRX A507D unknown
ATRX A535fs loss of function - predicted
ATRX C1590Y unknown
ATRX C220W unknown
ATRX D1058Y unknown
ATRX D1222N unknown
ATRX D1247H unknown
ATRX D1263E unknown
ATRX D1383A unknown
ATRX D1487N unknown
ATRX D1615G unknown
ATRX D163Y unknown
ATRX D1719G unknown
ATRX D2004Y unknown
ATRX D2136N unknown
ATRX D214A loss of function - predicted
ATRX D217A loss of function - predicted
ATRX D2326Y unknown
ATRX D2352Y unknown
ATRX D547N unknown
ATRX D774fs loss of function - predicted
ATRX del loss of function
ATRX E1010fs loss of function - predicted
ATRX E1365A unknown
ATRX E1446* loss of function - predicted
ATRX E1463K unknown
ATRX E1547* loss of function - predicted
ATRX E1547G unknown
ATRX E1684* loss of function - predicted
ATRX E1757Q unknown
ATRX E2172A unknown
ATRX E2172G unknown
ATRX E2246K unknown
ATRX E555* loss of function - predicted
ATRX E607K unknown
ATRX E853D unknown
ATRX E991fs loss of function - predicted
ATRX F1384L unknown
ATRX F1570C unknown
ATRX F2102C unknown
ATRX F2113Lfs*10 unknown
ATRX F2113Sfs*9 unknown
ATRX F2199V unknown
ATRX fusion unknown
ATRX G1071R unknown
ATRX G1567D unknown
ATRX G1589E unknown
ATRX G2110* unknown
ATRX G2120E unknown
ATRX G2169E unknown
ATRX G249D loss of function
ATRX H2260N unknown
ATRX H406D unknown
ATRX H865Q unknown
ATRX I1049* loss of function - predicted
ATRX I1049Kfs*69 loss of function - predicted
ATRX I1049Nfs*4 loss of function - predicted
ATRX I1784S unknown
ATRX I2026T unknown
ATRX I209A loss of function - predicted
ATRX I2133M unknown
ATRX I360Rfs*6 loss of function - predicted
ATRX I402N unknown
ATRX I528M unknown
ATRX inact mut loss of function
ATRX K1001fs loss of function - predicted
ATRX K1045* loss of function - predicted
ATRX K1300R unknown
ATRX K1420T unknown
ATRX K1600N unknown
ATRX K1650N loss of function
ATRX K1931fs loss of function - predicted
ATRX K2019E unknown
ATRX K2182R unknown
ATRX K2272R unknown
ATRX K425fs loss of function - predicted
ATRX K46T unknown
ATRX K715* loss of function - predicted
ATRX K923N unknown
ATRX L1592F unknown
ATRX L1612P unknown
ATRX L1612V unknown
ATRX L1879V unknown
ATRX L192S unknown
ATRX L2027P unknown
ATRX L2027R unknown
ATRX L276V unknown
ATRX L346P unknown
ATRX L407F unknown
ATRX L595F unknown
ATRX L639fs loss of function - predicted
ATRX loss loss of function
ATRX loss IDH1 mut
ATRX loss IDH2 mut
ATRX loss IDH1 R132H
ATRX M1596I unknown
ATRX M1800fs loss of function - predicted
ATRX mutant unknown
ATRX N1753D unknown
ATRX N1763I unknown
ATRX N1763K unknown
ATRX N2125S unknown
ATRX N247S unknown
ATRX negative loss of function
ATRX P1228S unknown
ATRX P1750R unknown
ATRX P1829L unknown
ATRX P1886L unknown
ATRX P449L unknown
ATRX P83L unknown
ATRX Q1603R unknown
ATRX Q1843H unknown
ATRX Q539R unknown
ATRX Q929E unknown
ATRX R1302Efs*44 loss of function - predicted
ATRX R1302fs loss of function - predicted
ATRX R1302Kfs*7 loss of function - predicted
ATRX R1302Lfs*43 loss of function - predicted
ATRX R1302Nfs*6 loss of function - predicted
ATRX R1371T unknown
ATRX R1417L unknown
ATRX R1426* loss of function - predicted
ATRX R1427H unknown
ATRX R1742G unknown
ATRX R1742S unknown
ATRX R1803C unknown
ATRX R2079* unknown
ATRX R2085P unknown
ATRX R2109I unknown
ATRX R2111* unknown
ATRX R2153C unknown
ATRX R2164S unknown
ATRX R2188Q unknown
ATRX R2197C unknown
ATRX R221K unknown
ATRX R2271Kfs*14 unknown
ATRX R246C loss of function - predicted
ATRX R246H unknown
ATRX R246L loss of function - predicted
ATRX R418* loss of function - predicted
ATRX R444Q unknown
ATRX R781* loss of function - predicted
ATRX R781Q unknown
ATRX R78Q unknown
ATRX R808* loss of function - predicted
ATRX R81M unknown
ATRX R840fs loss of function - predicted
ATRX R907* loss of function - predicted
ATRX R907Dfs*63 loss of function - predicted
ATRX S1046I unknown
ATRX S1173L unknown
ATRX S1792Y unknown
ATRX S2138F unknown
ATRX S342F unknown
ATRX S458* loss of function - predicted
ATRX S576L unknown
ATRX T1582fs loss of function - predicted
ATRX T1928K unknown
ATRX T899M unknown
ATRX V128A unknown
ATRX V15G unknown
ATRX V277A unknown
ATRX V939L unknown
ATRX W263R unknown
ATRX wild-type no effect
ATRX Y203A loss of function
ATRX Y204A loss of function - predicted
ATRX Y266N unknown
ATRX Y89F unknown