JAK2 c.1849G>C ;(p.V617L)

Variant ID: 9-5073770-G-C

NM_004972.3(JAK2):c.1849G>C;(p.V617L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Frontiers In Oncology
Li, Xiao-Qing XQ; Liu, Jia-Jun JJ; Liu, Cheng-Cheng CC
Publication Date: 2022

Variant appearance in text: JAK2: 1849G>C; V617L
PubMed Link: 36483035
Variant Present in the following documents:
  • Main text
  • fonc-12-937362.pdf
View BVdb publication page



Reconstructing the Lineage Histories and Differentiation Trajectories of Individual Cancer Cells in Myeloproliferative Neoplasms.

Cell Stem Cell
Van Egeren, Debra D; Escabi, Javier J; Nguyen, Maximilian M; Liu, Shichen S; Reilly, Christopher R CR; Patel, Sachin S; Kamaz, Baransel B; Kalyva, Maria M; DeAngelo, Daniel J DJ; Galinsky, Ilene I; Wadleigh, Martha M; Winer, Eric S ES; Luskin, Marlise R MR; Stone, Richard M RM; Garcia, Jacqueline S JS; Hobbs, Gabriela S GS; Camargo, Fernando D FD; Michor, Franziska F; Mullally, Ann A; Cortes-Ciriano, Isidro I; Hormoz, Sahand S
Publication Date: 2021-03-04

Variant appearance in text: JAK2: V617L
PubMed Link: 33621486
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc4.pdf
View BVdb publication page



Germline counterparts of oncogenic mutations: who gives a JAK?.

Oncotarget
Mead, Adam J AJ; Constantinescu, Stefan N SN; Jacobsen, Sten Eirik SE
Publication Date: 2013-06

Variant appearance in text: JAK2: V617L
PubMed Link: 23867309
Variant Present in the following documents:
  • oncotarget-04-814.pdf
View BVdb publication page



Transforming JAK1 mutations exhibit differential signalling, FERM domain requirements and growth responses to interferon-γ.

The Biochemical Journal
Gordon, Geoff M GM; Lambert, Que T QT; Daniel, Kenyon G KG; Reuther, Gary W GW
Publication Date: 2010-12-01

Variant appearance in text: JAK2: V617L
PubMed Link: 20868368
Variant Present in the following documents:
  • Main text
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: V617L
PubMed Link: 20585391
Variant Present in the following documents:
  • Main text
  • pone.0011157.pdf
View BVdb publication page