CYBB c.730T>A ;(p.C244S)

Variant ID: X-37658263-T-A

NM_000397.3(CYBB):c.730T>A;(p.C244S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Structure of human phagocyte NADPH oxidase in the resting state.

Elife
Liu, Rui R; Song, Kangcheng K; Wu, Jing-Xiang JX; Geng, Xiao-Peng XP; Zheng, Liming L; Gao, Xiaoyin X; Peng, Hailin H; Chen, Lei L
Publication Date: 2022-11-22

Variant appearance in text: NOX2: C244S
PubMed Link: 36413210
Variant Present in the following documents:
  • Main text
  • elife-83743.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: Cys244Ser
PubMed Link: 36241643
Variant Present in the following documents:
  • Main text
  • 41467_2022_33711_MOESM1_ESM.pdf
  • 41467_2022_Article_33711.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: Cys244Ser
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: C244S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 730T>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd
Hill, Harry R HR; Augustine, Nancy H NH; Pryor, Robert J RJ; Reed, Gudrun H GH; Bagnato, Joshua D JD; Tebo, Anne E AE; Bender, Jeffrey M JM; Pasi, Brian M BM; Chinen, Javier J; Hanson, I Celine IC; de Boer, Martin M; Roos, Dirk D; Wittwer, Carl T CT
Publication Date: 2010-05

Variant appearance in text: CYBB: C244S
PubMed Link: 20228266
Variant Present in the following documents:
  • Main text
View BVdb publication page