CYBB c.272G>T ;(p.R91L)

Variant ID: X-37651247-G-T

NM_000397.3(CYBB):c.272G>T;(p.R91L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient.

Biomedicines
Gunderman, Lauren L; Brown, Jeffrey J; Chaudhury, Sonali S; O'Gorman, Maurice M; Fuleihan, Ramsay R; Khanolkar, Aaruni A; Ahmed, Aisha A
Publication Date: 2023-03-21

Variant appearance in text: CYBB: 272G>T
PubMed Link: 36979938
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00959.pdf
View BVdb publication page



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: Arg91Leu
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page