JAK2 c.1795A>C ;(p.S599R)

Variant ID: 9-5073716-A-C

NM_004972.3(JAK2):c.1795A>C;(p.S599R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix.

The Biochemical Journal
Leroy, Emilie E; Dusa, Alexandra A; Colau, Didier D; Motamedi, Amir A; Cahu, Xavier X; Mouton, Céline C; Huang, Lily J LJ; Shiau, Andrew K AK; Constantinescu, Stefan N SN
Publication Date: 2016-06-01

Variant appearance in text: JAK2: S599R
PubMed Link: 27029346
Variant Present in the following documents:
  • Main text
  • bj4731579.pdf
View BVdb publication page