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Gene Symbol | ATM | ||||||||||
Synonyms | AT1 | ATA | ATC | ATD | ATDC | ATE | TEL1 | TELO1 | ||||||||||
Gene Description | ATM, ATM serine/threonine kinase, is a member of the serine-threonine kinase family and coordinates cellular responses to DNA damage through activation of distinct DNA repair and signaling pathways (PMID: 22079189). ATM germline mutations are associated with ataxia telangiectasia (PMID: 27283171) and ATM somatic mutations are commonly observed in endometrial, colon, pancreatic, breast cancers (PMID: 27283171, PMID: 27413114) and urothelial cancer (PMID: 29682192). | ||||||||||
|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM A1127V | unknown | |
ATM A1309T | unknown | |
ATM A1505V | unknown | |
ATM A1742P | loss of function - predicted | Olaparib |
ATM A1812P | unknown | |
ATM A1950T | unknown | |
ATM A2062V | loss of function - predicted | Olaparib |
ATM A2067D | loss of function | Olaparib |
ATM A220V | no effect - predicted | |
ATM A2274T | no effect - predicted | |
ATM A2308T | unknown | |
ATM A2420G | unknown | |
ATM A2524P | unknown | |
ATM A2602fs | loss of function - predicted | Olaparib |
ATM A2622T | unknown | |
ATM A2843V | unknown | |
ATM Q628Pfs*7 ATM I1581Nfs*5 ATM A2843V | ||
ATM A3006T | unknown | |
ATM A302fs | loss of function | Olaparib |
ATM A59S | loss of function - predicted | Olaparib |
ATM amp | no effect | |
ATM C2464R | no effect - predicted | |
ATM C2488Y | loss of function - predicted | Olaparib |
ATM C353fs | loss of function - predicted | Olaparib |
ATM C430S | unknown | |
ATM C532Y | unknown | |
ATM C540* | loss of function - predicted | Olaparib |
ATM C730Y | unknown | |
ATM D126E | unknown | |
ATM D1285G | unknown | |
ATM D1682H | loss of function - predicted | Olaparib |
ATM D1682Y | loss of function - predicted | Olaparib |
ATM D1853N | no effect - predicted | |
ATM D1853V | no effect - predicted | |
ATM D1963N | unknown | |
ATM D2320N | unknown | |
ATM D2395V | unknown | |
ATM D2448A | unknown | |
ATM D2448G | unknown | |
ATM D2625_A2626delinsEP | unknown | |
ATM D2708N | loss of function | Olaparib |
ATM D2720H | unknown | |
ATM D2720N | unknown | |
ATM D2721N | unknown | |
ATM D2721Y | unknown | |
ATM D2725G | unknown | |
ATM D2725V | unknown | |
ATM D2870Y | unknown | |
ATM D351Y | unknown | |
ATM D639G | unknown | |
ATM D983N | unknown | |
ATM dec exp | no effect | Olaparib |
ATM dec exp ATM inact mut | ||
ATM del | loss of function | Olaparib |
ATM del ATR dec exp | ||
ATM E1072* | loss of function - predicted | Olaparib |
ATM E1666* | loss of function - predicted | Olaparib |
ATM E1959K | unknown | |
ATM E1978* | loss of function - predicted | Olaparib |
ATM E2039* | loss of function - predicted | Olaparib |
ATM E2039K | loss of function - predicted | Olaparib |
ATM E2164G | unknown | |
ATM E2187* | loss of function | Olaparib |
ATM E2272* | loss of function - predicted | Olaparib |
ATM E2294G | unknown | |
ATM E2304Gfs*69 | loss of function - predicted | Olaparib |
ATM E2668G | no effect - predicted | |
ATM E277* | loss of function - predicted | Olaparib |
ATM E2904K | unknown | |
ATM E2977Rfs*2 | loss of function - predicted | Olaparib |
ATM I1294Nfs*8 ATM E2977Rfs*2 | ||
ATM E343* | loss of function - predicted | Olaparib |
ATM E390* | loss of function - predicted | Olaparib |
ATM E473* | loss of function - predicted | Olaparib |
ATM E473* ATM loss | ||
ATM E518fs | loss of function - predicted | Olaparib |
ATM E522* | loss of function - predicted | Olaparib |
ATM E668* | loss of function - predicted | Olaparib |
ATM E848Q | unknown | |
ATM E871K | unknown | |
ATM F1025L | loss of function - predicted | Olaparib |
ATM F1683V | unknown | |
ATM F168L | unknown | |
ATM F2140V | unknown | |
ATM F2516C | unknown | |
ATM F2571Yfs*4 | loss of function - predicted | Olaparib |
ATM F2732V | loss of function - predicted | Olaparib |
ATM F2827C | loss of function | Olaparib |
ATM F2839L | unknown | |
ATM F570L | unknown | |
ATM F582L | unknown | |
ATM F858L | no effect - predicted | |
ATM F897I | unknown | |
ATM G1459R | unknown | |
ATM G1676fs | loss of function - predicted | Olaparib |
ATM G2023R | unknown | |
ATM G2083* | loss of function - predicted | Olaparib |
ATM G2287A | no effect - predicted | |
ATM G2694R | unknown | |
ATM G2695A | unknown | |
ATM G2695C | unknown | |
ATM G2695S | unknown | |
ATM G2718_K2756del | loss of function | Olaparib |
ATM G2765S | loss of function | Olaparib |
ATM G2772R | no effect - predicted | |
ATM G2867R | loss of function | Olaparib |
ATM G2891D | unknown | |
ATM G2891R | unknown | |
ATM G514D | unknown | |
ATM H1380Y | loss of function - predicted | Olaparib |
ATM H1436Y | unknown | |
ATM H2038D | unknown | |
ATM H2038R | unknown | |
ATM H2038Y | loss of function - predicted | Olaparib |
ATM H2554D | loss of function | Olaparib |
ATM H2872Q | unknown | |
ATM H2872R | unknown | |
ATM I10fs | loss of function - predicted | Olaparib |
ATM I124V | unknown | |
ATM I1294Nfs*8 | loss of function - predicted | Olaparib |
ATM I1441fs | loss of function - predicted | Olaparib |
ATM Q1331H ATM I1441fs | ||
ATM I1453fs | loss of function - predicted | Olaparib |
ATM I1581Nfs*5 | loss of function - predicted | Olaparib |
ATM I1681V | loss of function | Olaparib |
ATM I1849fs | loss of function - predicted | Olaparib |
ATM I2629fs | loss of function - predicted | Olaparib |
ATM I2629fs ATM neg | ||
ATM I2701Nfs*17 | loss of function - predicted | Olaparib |
ATM I2888L | unknown | |
ATM I2888M | unknown | |
ATM I2888T | unknown | |
ATM I323V | unknown | |
ATM inact mut | loss of function | Olaparib |
ATM LOH ATM inact mut | ||
ATM inact mut ATM loss | ||
ATM K1410* | loss of function - predicted | Olaparib |
ATM K1773N | unknown | |
ATM K1807E | loss of function | Olaparib |
ATM K1964E | unknown | |
ATM K1992T | no effect - predicted | |
ATM K224E | unknown | |
ATM K2749I | loss of function - predicted | Olaparib |
ATM K2756* | loss of function - predicted | Olaparib |
ATM K2811fs | loss of function - predicted | Olaparib |
ATM K293* | loss of function | Olaparib |
ATM K3018Q | unknown | |
ATM K3043R | unknown | |
ATM K468Efs*18 | loss of function - predicted | Olaparib |
ATM K468fs | loss of function - predicted | Olaparib |
ATM L100W | unknown | |
ATM L1046R | unknown | |
ATM L1239fs | loss of function - predicted | Olaparib |
ATM L1322I | no effect - predicted | |
ATM L1408F | unknown | |
ATM L1408I | unknown | |
ATM L1420F | no effect - predicted | |
ATM L1439I | unknown | |
ATM L1449* | loss of function - predicted | Olaparib |
ATM L1465P | loss of function | Olaparib |
ATM L15fs | loss of function - predicted | Olaparib |
ATM L1675F | unknown | |
ATM L1874F | loss of function - predicted | Olaparib |
ATM L1939V | unknown | |
ATM L1956H | loss of function - predicted | Olaparib |
ATM L2077I | unknown | |
ATM L2307F | loss of function | |
ATM L2332P | unknown | |
ATM L2338P | loss of function | Olaparib |
ATM L2427P | loss of function | Olaparib |
ATM L2427_R2428del | loss of function | Olaparib |
ATM L2452P | loss of function | Olaparib |
ATM L2492R | unknown | |
ATM L2561M | unknown | |
ATM L2572fs | loss of function - predicted | Olaparib |
ATM L259I | unknown | |
ATM L2722M | unknown | |
ATM L2738* | loss of function - predicted | Olaparib |
ATM L2780R | unknown | |
ATM L2877F | unknown | |
ATM L2890I | unknown | |
ATM L2890P | unknown | |
ATM L2890R | unknown | |
ATM L2890V | loss of function - predicted | Olaparib |
ATM L2953Tfs*3 | loss of function - predicted | Olaparib |
ATM L2995I | unknown | |
ATM L348_M349insYIV | unknown | |
ATM L546V | no effect | |
ATM L581V | no effect - predicted | |
ATM L694R | unknown | |
ATM L762Qfs*4 | loss of function - predicted | Olaparib |
ATM L804fs | loss of function - predicted | Olaparib |
ATM L804fs ATM S978fs RET M918T | ||
ATM L822V | unknown | |
ATM L942I | unknown | |
ATM L991S | unknown | |
ATM LOH | unknown | |
ATM P1069fs ATM LOH | ||
ATM loss | loss of function | Olaparib |
ATM S214Pfs*16 ATM loss | ||
ATM S214Ffs*40 ATM loss | ||
ATM M1484Rfs*15 | loss of function - predicted | Olaparib |
ATM M2405L | unknown | |
ATM M2520fs | loss of function - predicted | Olaparib |
ATM M2531T | unknown | |
ATM M349K | unknown | |
ATM M779I | unknown | |
ATM mutant | unknown | |
ATM mut NRAS Q61R | ||
ATM mut CHEK2 mut | ||
ATM N1356D | unknown | |
ATM N1650S | unknown | Olaparib |
ATM N2326_K2363del | loss of function - predicted | Olaparib |
ATM N2603S | unknown | |
ATM N2875H | unknown | |
ATM N2875K | unknown | |
ATM N2875S | unknown | |
ATM N2875T | unknown | |
ATM N3033* | loss of function | Olaparib |
ATM N358I | unknown | |
ATM N765Kfs*12 | loss of function - predicted | Olaparib |
ATM N796H | unknown | |
ATM N81Tfs*20 | loss of function - predicted | Olaparib |
ATM N914S | unknown | |
ATM negative | loss of function | Olaparib |
ATM T2333fs ATM neg | ||
ATM over exp | no effect | |
ATM P1054R | no effect | |
ATM P1069fs | loss of function - predicted | Olaparib |
ATM P1235L | unknown | |
ATM P178S | unknown | |
ATM P2353H | unknown | |
ATM P2353T | unknown | |
ATM P2665T | unknown | |
ATM P2699L | loss of function | Olaparib |
ATM P2699S | unknown | Olaparib |
ATM P2842L | unknown | |
ATM P292L | loss of function | Olaparib |
ATM P2974L | loss of function | Olaparib |
ATM P604S | loss of function - predicted | Olaparib |
ATM P631S | unknown | |
ATM P80S | unknown | |
ATM P960H | loss of function - predicted | Olaparib |
ATM positive | unknown | |
ATM Q1128R | unknown | |
ATM Q1171Tfs*8 | loss of function - predicted | Olaparib |
ATM Q1331H | unknown | |
ATM Q1537R | unknown | |
ATM Q1579fs | loss of function - predicted | Olaparib |
ATM Q1627* | loss of function - predicted | Olaparib |
ATM Q1636Rfs*10 | loss of function - predicted | Olaparib |
ATM Q1906* | loss of function - predicted | Olaparib |
ATM Q1919P | unknown | |
ATM Q1970* | loss of function - predicted | Olaparib |
ATM Q2066L | unknown | |
ATM Q2277* | loss of function - predicted | Olaparib |
ATM Q2297* | loss of function - predicted | Olaparib |
ATM Q2397* | loss of function - predicted | Olaparib |
ATM Q2442P | unknown | |
ATM Q2522fs | loss of function - predicted | Olaparib |
ATM Q2729H | unknown | |
ATM Q2730P | loss of function | Olaparib |
ATM Q2730R | unknown | |
ATM Q2762R | unknown | |
ATM Q2800* | loss of function - predicted | Olaparib |
ATM Q2809P | unknown | |
ATM Q284* | loss of function - predicted | Olaparib |
ATM Q2972* | loss of function - predicted | Olaparib |
ATM Q3038* | unknown | |
ATM Q628Pfs*7 | loss of function - predicted | Olaparib |
ATM R1150I | unknown | |
ATM R1304* | loss of function - predicted | Olaparib |
ATM R1466* | loss of function - predicted | Olaparib |
ATM R1466P | unknown | |
ATM R1466Q | unknown | |
ATM R1575H | no effect | |
ATM R1618* | loss of function - predicted | Olaparib |
ATM R1730* | loss of function - predicted | Olaparib |
ATM R1730Q | unknown | |
ATM R1875* | loss of function - predicted | Olaparib |
ATM R1882* | loss of function - predicted | Olaparib |
ATM R1882* ATM R3008H | ||
ATM R1898* | loss of function - predicted | Olaparib |
ATM R1918T | unknown | |
ATM R2032K | unknown | |
ATM R2034* | loss of function - predicted | Olaparib |
ATM R2034P | loss of function - predicted | Olaparib |
ATM R2138Kfs*8 | loss of function - predicted | Olaparib |
ATM R221I | unknown | |
ATM R23Q | unknown | |
ATM R2443P | unknown | |
ATM R2443Q | unknown | |
ATM R2459C | unknown | |
ATM R248Q | unknown | |
ATM R250* | loss of function - predicted | Olaparib |
ATM R2506_N2543del | loss of function | Olaparib |
ATM R250Sfs*3 | loss of function - predicted | Olaparib |
ATM R2526S | unknown | |
ATM R2547_S2549del | loss of function | Olaparib |
ATM R2598* | loss of function - predicted | Olaparib |
ATM R2598Q | unknown | |
ATM R2691C | loss of function - predicted | Olaparib |
ATM R2832C | loss of function | Olaparib |
ATM R2832S | unknown | |
ATM R2849* | loss of function - predicted | Olaparib |
ATM R2849P | loss of function | Olaparib |
ATM R2854C | unknown | |
ATM R2912Efs*26 | loss of function - predicted | Olaparib |
ATM R2912G | unknown | |
ATM R2993* | loss of function - predicted | Olaparib |
ATM R3008C | loss of function | Olaparib |
ATM R3008H | loss of function | Olaparib |
ATM R3008L | unknown | |
ATM R3008X | unknown | |
ATM R3047* | loss of function - predicted | Olaparib |
ATM R337C | unknown | |
ATM R337H | unknown | |
ATM R337S | loss of function | Olaparib |
ATM R337X | unknown | |
ATM R45Q | no effect - predicted | |
ATM R805* | loss of function - predicted | Olaparib |
ATM R832C | unknown | |
ATM S1135_K1192del | unknown | Olaparib |
ATM S131* | loss of function - predicted | Olaparib |
ATM S1403fs | loss of function - predicted | Olaparib |
ATM S1455R | loss of function | Olaparib |
ATM S1455Vfs*3 | loss of function - predicted | Olaparib |
ATM S1599* | loss of function - predicted | Olaparib |
ATM S1691R | no effect | |
ATM S1905Ifs*25 | loss of function - predicted | Olaparib |
ATM S1983N | unknown | |
ATM S1993fs | loss of function - predicted | Olaparib |
ATM W1058* ATM S1993fs | ||
ATM S1993Rfs*23 | loss of function - predicted | Olaparib |
ATM S2017fs | loss of function - predicted | Olaparib |
ATM S2017T | unknown | |
ATM S214Ffs*40 | loss of function - predicted | |
ATM S214fs | loss of function - predicted | Olaparib |
ATM S214Pfs*16 | loss of function - predicted | Olaparib |
ATM S2190* | loss of function - predicted | |
ATM S2394L | loss of function | Olaparib |
ATM S2407* | loss of function - predicted | Olaparib |
ATM S2489F | unknown | |
ATM S2592C | loss of function | Olaparib |
ATM S2685T | no effect | |
ATM S2707C | no effect - predicted | |
ATM S2761Vfs*41 | loss of function - predicted | Olaparib |
ATM S2812Vfs*3 | loss of function - predicted | Olaparib |
ATM S2812Y | unknown | |
ATM S2855_V2856delinsRI | loss of function | Olaparib |
ATM S2859F | unknown | |
ATM S2860del | unknown | |
ATM S3001N | unknown | |
ATM S3027I | unknown | |
ATM S333F | loss of function | Olaparib |
ATM S421* | loss of function - predicted | Olaparib |
ATM S49C | unknown | |
ATM S707P | unknown | |
ATM S719* | loss of function - predicted | Olaparib |
ATM S751* | loss of function - predicted | Olaparib |
ATM S824F | loss of function - predicted | Olaparib |
ATM S978A | unknown | |
ATM S978C | unknown | |
ATM S978fs | loss of function - predicted | Olaparib |
ATM S978P | unknown | |
ATM S99G | unknown | |
ATM T1200Lfs*7 | loss of function - predicted | Olaparib |
ATM T1200Lfs*7 NRAS Q61K TP53 R213* | ||
ATM T1350M | unknown | |
ATM T1743I | loss of function | Olaparib |
ATM T1756I | unknown | |
ATM T1880R | unknown | |
ATM T2031I | no effect - predicted | |
ATM T2333fs | loss of function - predicted | Olaparib |
ATM T2333Nfs*40 | loss of function - predicted | Olaparib |
ATM T2396S | unknown | |
ATM T2666A | loss of function | Olaparib |
ATM T2743M | unknown | |
ATM T2902fs | loss of function - predicted | Olaparib |
ATM T2934I | unknown | |
ATM T2947S | loss of function - predicted | Olaparib |
ATM T593del | unknown | |
ATM T86I | unknown | |
ATM V1268* | loss of function - predicted | Olaparib |
ATM V1268fs | loss of function - predicted | Olaparib |
ATM V1538fs | loss of function - predicted | Olaparib |
ATM V1570A | unknown | |
ATM V1671D | unknown | |
ATM V1841I | no effect - predicted | |
ATM V1941L | loss of function | Olaparib |
ATM V2119fs | loss of function - predicted | Olaparib |
ATM V2288fs | loss of function - predicted | Olaparib |
ATM V2424G | loss of function | Olaparib |
ATM V2439A | unknown | |
ATM V2664del | loss of function | |
ATM V2716A | loss of function | Olaparib |
ATM V2727A | unknown | |
ATM V2731G | unknown | |
ATM V278fs | loss of function - predicted | Olaparib |
ATM V2873I | unknown | |
ATM V2951F | unknown | |
ATM V410A | unknown | |
ATM V519I | loss of function - predicted | Olaparib |
ATM V566Ifs*6 | loss of function - predicted | Olaparib |
ATM V60F | unknown | |
ATM V630M | unknown | |
ATM W1058* | loss of function - predicted | Olaparib |
ATM W2104* | loss of function - predicted | Olaparib |
ATM W2109* | loss of function - predicted | Olaparib |
ATM W2300* | loss of function - predicted | Olaparib |
ATM W2845C | unknown | |
ATM W3052C | unknown | |
ATM W412* | loss of function - predicted | Olaparib |
ATM W412C | unknown | |
ATM W524* | loss of function - predicted | Olaparib |
ATM W57* | loss of function - predicted | Olaparib |
ATM wild-type | no effect | |
ATM wild-type TP53 mut | ||
ATM Y1124F | unknown | |
ATM Y1229* | loss of function - predicted | Olaparib |
ATM Y1442* | loss of function - predicted | Olaparib |
ATM Y1961C | loss of function | Olaparib |
ATM Y2019C | loss of function - predicted | Olaparib |
ATM Y2371* | loss of function - predicted | Olaparib |
ATM Y2398C | unknown | |
ATM Y2437C | unknown | |
ATM Y2437S | unknown | |
ATM Y2755C | unknown | |
ATM Y2954C | unknown | |
ATM Y54* | loss of function - predicted | Olaparib |