JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1346944271
rs1346944271
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1292769
Disease:
Precursor B-cell lymphoblastic leukemia
0.010 GeneticVariation BEFREE Furthermore, we show that primary ALL mononuclear cells harboring the JAK2 R938Q mutation display reduced sensitivity to the JAK1/2 ATP-competitive inhibitor ruxolitinib in vitro, compared to ALL cells that carry a more common JAK2 pseudokinase domain mutation. 29025600 2017
dbSNP: rs1057519723
rs1057519723
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1292769
Disease:
Precursor B-cell lymphoblastic leukemia
0.010 GeneticVariation BEFREE This study provides clues in understanding the mechanism of JAK2 R683S (G) mutations caused B-ALL. 23748007 2013
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1292769
Disease:
Precursor B-cell lymphoblastic leukemia
0.010 GeneticVariation BEFREE In this study, we identify G935R, Y931C, and E864K mutations within the JAK2 kinase domain that confer resistance across a panel of JAK inhibitors, whether present in cis with JAK2 V617F (observed in MPNs) or JAK2 R683G (observed in B-ALL). 22271575 2012
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1292769
Disease:
Precursor B-cell lymphoblastic leukemia
0.010 GeneticVariation BEFREE In this study, we identify G935R, Y931C, and E864K mutations within the JAK2 kinase domain that confer resistance across a panel of JAK inhibitors, whether present in cis with JAK2 V617F (observed in MPNs) or JAK2 R683G (observed in B-ALL). 22271575 2012