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Gene Symbol NOTCH1
Synonyms AOS5 | AOVD1 | hN1 | TAN1
Gene Description NOTCH1, notch receptor 1, is one of four Notch transmembrane receptors, that bind Delta or Jagged ligands (PMID: 30289388), and plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645, PMID: 32211044), and gastric cancers (PMID: 30043645).

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Molecular Profile Protein Effect Treatment Approaches
NOTCH1 A1125V unknown
NOTCH1 A1436V unknown
NOTCH1 A1552G gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 A1552V gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 A1570G gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 A1634V unknown
NOTCH1 A1640T unknown
NOTCH1 A1701P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 A1707T gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 A2036V unknown
NOTCH1 A2101T unknown
NOTCH1 A2256fs unknown
NOTCH1 A2331T unknown
NOTCH1 A2356V unknown
NOTCH1 A2441fs unknown
NOTCH1 A2441T unknown
NOTCH1 A2463fs unknown
NOTCH1 A465P unknown
NOTCH1 A465T loss of function
NOTCH1 act mut gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 amp no effect Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
ROS1 fusion ERBB2 amp NOTCH1 amp SRC amp STK11 amp
NOTCH1 C1045Y unknown
NOTCH1 C1068Y unknown
NOTCH1 C1085W unknown
NOTCH1 C1085Y unknown
NOTCH1 C1094W unknown
NOTCH1 C1154W unknown
NOTCH1 C1253Y unknown
NOTCH1 C127F unknown
NOTCH1 C1304Y unknown
NOTCH1 C1345Y unknown
NOTCH1 C1425F unknown
NOTCH1 C227Y unknown
NOTCH1 C344fs loss of function - predicted
NOTCH1 C387Y unknown
NOTCH1 C416F unknown
NOTCH1 C423W unknown
NOTCH1 C429F unknown
NOTCH1 C429S unknown
NOTCH1 C429Y unknown
NOTCH1 C438S unknown
NOTCH1 C440F unknown
NOTCH1 C440R unknown
NOTCH1 C440S unknown
NOTCH1 C449Y unknown
NOTCH1 C456R unknown
NOTCH1 C456Y unknown
NOTCH1 C461Y unknown
NOTCH1 C467F unknown
NOTCH1 C467Y unknown
NOTCH1 C478F loss of function - predicted
NOTCH1 C478S unknown
NOTCH1 C478Y unknown
NOTCH1 C532Y unknown
NOTCH1 C600S unknown
NOTCH1 C664R unknown
NOTCH1 C682F unknown
NOTCH1 C68Y unknown
NOTCH1 C74F unknown
NOTCH1 C750S unknown
NOTCH1 C815R unknown
NOTCH1 C833Y unknown
NOTCH1 C878Y unknown
NOTCH1 C893S unknown
NOTCH1 C969G unknown
NOTCH1 D1517N unknown
NOTCH1 D1533A unknown
EML4 - ALK NOTCH1 D1533A
NOTCH1 D1538A unknown
EML4 - ALK NOTCH1 D1538A
NOTCH1 D1815fs loss of function - predicted
NOTCH1 D2020H unknown
NOTCH1 D469G loss of function - predicted
NOTCH1 D469Y unknown
NOTCH1 D568N unknown
NOTCH1 D571A unknown
NOTCH1 D571Y unknown
NOTCH1 D573A unknown
NOTCH1 D573E unknown
NOTCH1 D573H unknown
NOTCH1 D622N unknown
NOTCH1 dec exp no effect
NOTCH1 E1567K no effect - predicted
NOTCH1 E1583_Q1584insPVELMPPE unknown
NOTCH1 E1679* loss of function - predicted
NOTCH1 E294V unknown
NOTCH1 E424K unknown
NOTCH1 E450K unknown
NOTCH1 E694* loss of function - predicted
NOTCH1 E694G unknown
NOTCH1 E694K unknown
NOTCH1 E694Q unknown
NOTCH1 E756K unknown
NOTCH1 E848K unknown
NOTCH1 E943K unknown
NOTCH1 F1592S gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 F1748S unknown
NOTCH1 F357del unknown
NOTCH1 F357S unknown
NOTCH1 F783S unknown
NOTCH1 G1088S unknown
NOTCH1 G115fs loss of function - predicted
NOTCH1 G1195R unknown
NOTCH1 G1215C unknown
NOTCH1 G1258C unknown
NOTCH1 G1376S unknown
NOTCH1 G1659D unknown
NOTCH1 G192* loss of function - predicted
NOTCH1 G193A unknown
NOTCH1 G1995D unknown
NOTCH1 G21V unknown
NOTCH1 G310R unknown
NOTCH1 G326V unknown
NOTCH1 G434C unknown
NOTCH1 G481C unknown
NOTCH1 G481R unknown
NOTCH1 G481S unknown
NOTCH1 G481V unknown
NOTCH1 G484V unknown
NOTCH1 G578_S579insG unknown
NOTCH1 G583R unknown
NOTCH1 G653C unknown
NOTCH1 G661S loss of function
NOTCH1 G672W unknown
NOTCH1 G690V unknown
NOTCH1 G691_T692delinsA unknown
NOTCH1 G696S unknown
NOTCH1 G812W unknown
NOTCH1 G842W unknown
NOTCH1 G919W unknown
NOTCH1 G936C unknown
NOTCH1 G957W unknown
NOTCH1 G95W unknown
NOTCH1 G977E unknown
NOTCH1 G977W unknown
NOTCH1 H165D unknown
NOTCH1 H165L unknown
NOTCH1 H2018fs unknown
NOTCH1 H2428fs gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 H562fs loss of function - predicted
NOTCH1 H576R unknown
NOTCH1 H688D unknown
NOTCH1 H688L unknown
NOTCH1 I1616N gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 I1616T gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 I163L unknown
NOTCH1 I163S unknown
NOTCH1 I1680N gain of function
NOTCH1 I1680S gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 I1718T gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 I697L unknown
NOTCH1 inact mut loss of function
NOTCH1 K581Q unknown
NOTCH1 L1574P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 L1585P unknown
NOTCH1 L1593P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 L1596H gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 L1600P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 L1600Q unknown
NOTCH1 L1600Q NOTCH1 S2467fs
FBXW7 W606* NOTCH1 L1600Q NOTCH1 V1721G NOTCH1 S2467fs
NOTCH1 L1678P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 L1980P unknown
NOTCH1 L2139F unknown
NOTCH1 L2457V unknown
NOTCH1 L2482* unknown
NOTCH1 mutant unknown
NOTCH1 mut RB1 wild-type
NOTCH1 N459S unknown
NOTCH1 N689H unknown
NOTCH1 - PRKCA unknown
NOTCH1 over exp no effect Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 P1377S unknown
NOTCH1 P1386T unknown
NOTCH1 P1442fs loss of function - predicted
NOTCH1 P1770S unknown
NOTCH1 P186S unknown
NOTCH1 P2377L unknown
NOTCH1 P2415del unknown
NOTCH1 P2438fs unknown
NOTCH1 P2462fs gain of function - predicted
NOTCH1 P2475fs gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 P2493fs unknown
NOTCH1 P2514* unknown
NOTCH1 P2514fs unknown
NOTCH1 P2514Rfs*4 gain of function - predicted
NOTCH1 P391S unknown
NOTCH1 P422S unknown
NOTCH1 P572R unknown
NOTCH1 P572T unknown
NOTCH1 P915L unknown
NOTCH1 positive unknown
NOTCH1 Q1019* loss of function - predicted
NOTCH1 Q1076H unknown
NOTCH1 Q1134R unknown
NOTCH1 Q1584Lfs*21 loss of function - predicted
NOTCH1 Q1694* loss of function - predicted
NOTCH1 Q1957* unknown
NOTCH1 Q2440* gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 Q2444* gain of function - predicted
NOTCH1 Q2459* gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 Q2487L unknown
NOTCH1 Q2503* unknown
NOTCH1 Q290E unknown
NOTCH1 Q439* loss of function - predicted
NOTCH1 Q442* loss of function - predicted
NOTCH1 Q619L unknown
NOTCH1 R1279H no effect - predicted
NOTCH1 R1594Q loss of function - predicted
NOTCH1 R1598P gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 R1608H unknown
NOTCH1 R1608S no effect - predicted
NOTCH1 R1608T unknown
NOTCH1 R1608V unknown
NOTCH1 R1627L gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 R1633C unknown
NOTCH1 R1662W unknown
NOTCH1 R1683W gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 R1784W unknown
NOTCH1 R353C unknown
NOTCH1 R353H unknown
NOTCH1 R365C unknown
NOTCH1 R365H unknown
NOTCH1 rearrange unknown
NOTCH1 S1004L unknown
NOTCH1 S137L unknown
NOTCH1 S1970P unknown
NOTCH1 S2329fs unknown
NOTCH1 S2449fs gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 S2450N unknown
NOTCH1 S2467* gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 S2467fs unknown Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 S2492* unknown
NOTCH1 S2499_F2554del unknown
NOTCH1 S2523L unknown
NOTCH1 S341G unknown
NOTCH1 S579T unknown
NOTCH1 S94C unknown
NOTCH1 T1138P unknown
NOTCH1 T174N unknown
NOTCH1 T194P unknown
NOTCH1 T293S unknown
NOTCH1 T311P unknown
NOTCH1 T561fs loss of function - predicted
NOTCH1 T588P unknown
NOTCH1 T712P unknown
NOTCH1 T767I unknown
NOTCH1 T887I unknown
NOTCH1 V1110_S1723del unknown
NOTCH1 V1324M unknown
NOTCH1 V1575A gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V1576E gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V1578del unknown
NOTCH1 V1599M gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V1605del unknown
NOTCH1 V1605E unknown
NOTCH1 V1671I unknown
NOTCH1 V1676D gain of function Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V1676I gain of function - predicted Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V1721G unknown
NOTCH1 V1721M unknown
NOTCH1 V2110M unknown
NOTCH1 V2249* unknown
NOTCH1 V2285I unknown
NOTCH1 V2443fs unknown Gamma secretase inhibitor NOTCH Inhibitor (Pan) NOTCH1 Antibody NOTCH1 Inhibitor
NOTCH1 V2536I unknown
NOTCH1 V296M unknown
NOTCH1 V489fs loss of function - predicted
NOTCH1 V565A unknown
NOTCH1 V565M unknown
NOTCH1 W861C unknown
NOTCH1 wild-type no effect
NOTCH1 wild-type RB1 wild-type
NOTCH1 wild-type RB1 loss
NOTCH1 Y1619P unknown
NOTCH1 Y1620G unknown
NOTCH1 Y1716C unknown
NOTCH1 Y291D unknown
NOTCH1 Y550N unknown
NOTCH1 Y577H unknown
NOTCH1 Y625D unknown