CYBB c.1531T>G ;(p.Y511D)

Variant ID: X-37668889-T-G

NM_000397.3(CYBB):c.1531T>G;(p.Y511D)

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: Tyr511Asp
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page



Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.

Antioxidants (Basel, Switzerland)
Chiriaco, Maria M; Salfa, Irene I; Ursu, Giorgiana Madalina GM; Cifaldi, Cristina C; Di Cesare, Silvia S; Rossi, Paolo P; Di Matteo, Gigliola G; Finocchi, Andrea A
Publication Date: 2021-06-01

Variant appearance in text: CYBB: 1531T>G
PubMed Link: 34206017
Variant Present in the following documents:
  • Main text
  • antioxidants-10-00891.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: Y511D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page