CYBB c.627T>G ;(p.H209Q)

Variant ID: X-37655347-T-G

NM_000397.3(CYBB):c.627T>G;(p.H209Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A
Publication Date: 2017-06-27

Variant appearance in text: NOX2: His209Gln
PubMed Link: 28607049
Variant Present in the following documents:
  • Main text
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: CYBB: H209Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page