CYBB c.189C>A ;(p.N63K)

Variant ID: X-37642790-C-A

NM_000397.3(CYBB):c.189C>A;(p.N63K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structure of the core human NADPH oxidase NOX2.

Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14

Variant appearance in text: NOX2: Asn63Lys
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page



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: Asn63Lys
PubMed Link: 28607049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?

Journal Of Clinical Pathology
Lakshman, R R; Bruce, S S; Spencer, D A DA; Crawford, D D; Galloway, A A; Cooper, P N PN; Barge, D D; Roos, D D; Flood, T J TJ; Abinun, M M
Publication Date: 2005-12

Variant appearance in text: CYBB: Asn63Lys
PubMed Link: 16311362
Variant Present in the following documents:
  • Main text
View BVdb publication page