CYBB c.1226C>A ;(p.A409E)

Variant ID: X-37664333-C-A

NM_000397.3(CYBB):c.1226C>A;(p.A409E)

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: Ala409Glu
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page



Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology
Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X
Publication Date: 2022-10

Variant appearance in text: CGD: Ala409Glu
PubMed Link: 35796921
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1324.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: CYBB: A409E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page