JAK2 c.2017A>G ;(p.N673D)

Variant ID: 9-5078330-A-G

NM_004972.3(JAK2):c.2017A>G;(p.N673D)

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:

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: N673D
PubMed Link: 22820988
Variant Present in the following documents:
  • Main text
  • nihms389422.pdf
View BVdb publication page