JAK2 c.1783_1784delinsGC ;(p.F595A)

Variant ID: 9-5073704-TT-GC

NM_004972.3(JAK2):c.1783_1784delinsGC;(p.F595A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Insights into the Potential Mechanisms of JAK2V617F Somatic Mutation Contributing Distinct Phenotypes in Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Gou, Panhong P; Zhang, Wenchao W; Giraudier, Stephane S
Publication Date: 2022-01-18

Variant appearance in text: JAK2: F595A
PubMed Link: 35162937
Variant Present in the following documents:
  • Main text
  • ijms-23-01013.pdf
View BVdb publication page



Insights into the Potential Mechanisms of JAK2V617F Somatic Mutation Contributing Distinct Phenotypes in Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Gou, Panhong P; Zhang, Wenchao W; Giraudier, Stephane S
Publication Date: 2022-01-18

Variant appearance in text: JAK2: F595A
PubMed Link: 35162937
Variant Present in the following documents:
  • Main text
  • ijms-23-01013.pdf
View BVdb publication page



Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations.

Science (New York, N.Y.)
Wilmes, Stephan S; Hafer, Maximillian M; Vuorio, Joni J; Tucker, Julie A JA; Winkelmann, Hauke H; Löchte, Sara S; Stanly, Tess A TA; Pulgar Prieto, Katiuska D KD; Poojari, Chetan C; Sharma, Vivek V; Richter, Christian P CP; Kurre, Rainer R; Hubbard, Stevan R SR; Garcia, K Christopher KC; Moraga, Ignacio I; Vattulainen, Ilpo I; Hitchcock, Ian S IS; Piehler, Jacob J
Publication Date: 2020-02-07

Variant appearance in text: JAK2: F595A
PubMed Link: 32029621
Variant Present in the following documents:
  • Main text
View BVdb publication page



Janus kinase 2 activation mechanisms revealed by analysis of suppressing mutations.

The Journal Of Allergy And Clinical Immunology
Hammarén, Henrik M HM; Virtanen, Anniina T AT; Abraham, Bobin George BG; Peussa, Heidi H; Hubbard, Stevan R SR; Silvennoinen, Olli O
Publication Date: 2019-04

Variant appearance in text: JAK2: F595A
PubMed Link: 30092288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.

Frontiers In Endocrinology
Hubbard, Stevan R SR
Publication Date: 2017

Variant appearance in text: JAK2: F595A
PubMed Link: 29379470
Variant Present in the following documents:
  • Main text
  • fendo-08-00361.pdf
View BVdb publication page



ATP binding to the pseudokinase domain of JAK2 is critical for pathogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hammarén, Henrik M HM; Ungureanu, Daniela D; Grisouard, Jean J; Skoda, Radek C RC; Hubbard, Stevan R SR; Silvennoinen, Olli O
Publication Date: 2015-04-14

Variant appearance in text: JAK2: F595A
PubMed Link: 25825724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.

Nature Structural & Molecular Biology
Shan, Yibing Y; Gnanasambandan, Kavitha K; Ungureanu, Daniela D; Kim, Eric T ET; Hammarén, Henrik H; Yamashita, Kazuo K; Silvennoinen, Olli O; Shaw, David E DE; Hubbard, Stevan R SR
Publication Date: 2014-07

Variant appearance in text: JAK2: F595A
PubMed Link: 24918548
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structures of the JAK2 pseudokinase domain and the pathogenic mutant V617F.

Nature Structural & Molecular Biology
Bandaranayake, Rajintha M RM; Ungureanu, Daniela D; Shan, Yibing Y; Shaw, David E DE; Silvennoinen, Olli O; Hubbard, Stevan R SR
Publication Date: 2012-08

Variant appearance in text: JAK2: F595A
PubMed Link: 22820988
Variant Present in the following documents:
  • Main text
  • nihms389422.pdf
View BVdb publication page



JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.

Plos One
Dusa, Alexandra A; Mouton, Céline C; Pecquet, Christian C; Herman, Murielle M; Constantinescu, Stefan N SN
Publication Date: 2010-06-16

Variant appearance in text: JAK2: F595A
PubMed Link: 20585391
Variant Present in the following documents:
  • Main text
  • pone.0011157.pdf
View BVdb publication page