JAK2 c.1752T>A ;(p.D584E)

Variant ID: 9-5072602-T-A

NM_004972.3(JAK2):c.1752T>A;(p.D584E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: JAK2: D584E
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17490221
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: JAK2: D584E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Design and evaluation of a real-time PCR assay for quantification of JAK2 V617F and wild-type JAK2 transcript levels in the clinical laboratory.

The Journal Of Molecular Diagnostics : Jmd
Merker, Jason D JD; Jones, Carol D CD; Oh, Stephen T ST; Schrijver, Iris I; Gotlib, Jason J; Zehnder, James L JL
Publication Date: 2010-01

Variant appearance in text: rs17490221
PubMed Link: 19959796
Variant Present in the following documents:
  • Main text
View BVdb publication page