Gene Detail

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Gene Symbol JAK3
Synonyms JAK-3 | JAK3_HUMAN | JAKL | L-JAK | LJAK
Gene Description JAK3, Janus kinase 3, is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway (PMID: 15575979). JAK3 gain of function mutations are commonly observed in T-cell leukemias and lymphomas (PMID: 30079384, PMID: 30250904, PMID: 28284718).

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Molecular Profile Protein Effect Treatment Approaches
JAK3 A1090T unknown
JAK3 A572T gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 A572V gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 A573V gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 A58del loss of function
JAK3 A593T no effect - predicted
JAK3 A699V unknown
JAK3 A728fs loss of function - predicted
JAK3 act mut gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 C1077F unknown
JAK3 C162Y unknown
JAK3 C759R loss of function
JAK3 D169E loss of function
JAK3 D294G unknown
JAK3 D863E unknown
JAK3 D949N no effect - predicted
JAK3 E1106G no effect
JAK3 E183G gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 E552Q unknown
JAK3 E567R unknown
JAK3 E639K loss of function
JAK3 E694fs loss of function - predicted
JAK3 E717K unknown
JAK3 E958K gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 F569Y unknown
JAK3 F666L gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 F711fs loss of function - predicted
JAK3 G1057N unknown
JAK3 G538D unknown
JAK3 G589D gain of function - predicted
JAK3 G589S loss of function - predicted
JAK3 G62S gain of function
JAK3 G888A unknown
JAK3 G969V unknown
JAK3 H1118R unknown
JAK3 H583N unknown
JAK3 H583Y gain of function - predicted
JAK3 I535F loss of function - predicted
JAK3 I535M unknown
JAK3 I688F unknown
JAK3 I688L unknown
JAK3 I726fs loss of function - predicted
JAK3 I87T gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 inact mut loss of function
JAK3 K550N unknown
JAK3 K556A unknown
JAK3 K733N unknown
JAK3 K855A loss of function
JAK3 L1017M unknown
JAK3 L1091P no effect - predicted
JAK3 L1091R unknown
JAK3 L156P gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 L527P unknown
JAK3 L527R unknown
JAK3 L570F no effect - predicted
JAK3 L586_M592del loss of function - predicted
JAK3 L679V unknown
JAK3 L857H gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 L857P gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 Y100A JAK3 L857P
JAK3 L857Q gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 L875H gain of function - predicted
JAK3 M511I gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 M576fs loss of function - predicted
JAK3 M576L gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 M592F gain of function - predicted
JAK3 M937T unknown
JAK3 mutant unknown
JAK3 P1086Q unknown
JAK3 P132A unknown JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 P132T gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 P151R unknown
JAK3 P307S unknown
JAK3 P396L unknown
JAK3 P420S unknown
JAK3 P725fs loss of function - predicted
JAK3 P84fs loss of function - predicted
JAK3 P906S gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 P975L unknown
JAK3 Q283H no effect - predicted
JAK3 Q39fs loss of function - predicted
JAK3 Q501H gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 Q507L unknown
JAK3 Q507P gain of function
JAK3 Q507R unknown
JAK3 Q743L unknown
JAK3 R1085Q unknown
JAK3 R142C unknown
JAK3 R172Q gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 R172W unknown
JAK3 R175Q unknown
JAK3 R223H unknown
JAK3 R272H no effect
JAK3 R402H loss of function - predicted
JAK3 R403H no effect
JAK3 R40H unknown
JAK3 R540H unknown
JAK3 R657Q gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 R657W gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 R887C unknown
JAK3 R918C unknown
JAK3 R925S no effect
JAK3 R943C unknown
JAK3 R944H unknown
JAK3 R948C unknown
JAK3 R953* unknown
FLT3 exon 14 ins JAK3 R953*
JAK3 rearrange unknown
JAK3 S1124L unknown
JAK3 S577fs loss of function - predicted
JAK3 S703fs loss of function - predicted
JAK3 S720N unknown
JAK3 S727fs loss of function - predicted
JAK3 S989I unknown
JAK3 T1022I gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 T848A gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 T8M unknown
JAK3 V579fs loss of function - predicted
JAK3 V674A gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 V674F unknown
JAK3 V678L gain of function
JAK3 V678M gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
JAK3 V715A unknown
JAK3 V715I unknown
JAK3 V718L unknown
JAK3 V722I gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive
FLT3 exon 14 ins JAK3 V722I
JAK3 W709C unknown
JAK3 W709L unknown
JAK3 W716* loss of function - predicted
JAK3 wild-type no effect
JAK3 Y100A loss of function
JAK3 Y100C loss of function
JAK3 Y1023H unknown
JAK3 Y980F loss of function