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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 |