JAK2 c.2096A>C ;(p.D699A)

Variant ID: 9-5078409-A-C

NM_004972.3(JAK2):c.2096A>C;(p.D699A)

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:

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: D699A
PubMed Link: 25825724
Variant Present in the following documents:
  • Main text
View BVdb publication page