CYBB c.1456T>G ;(p.S486A)

Variant ID: X-37665781-T-G

NM_000397.3(CYBB):c.1456T>G;(p.S486A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Down-regulation of NOX2 activity in phagocytes mediated by ATM-kinase dependent phosphorylation.

Free Radical Biology & Medicine
Beaumel, Sylvain S; Picciocchi, Antoine A; Debeurme, Franck F; Vivès, Corinne C; Hesse, Anne-Marie AM; Ferro, Myriam M; Grunwald, Didier D; Stieglitz, Heather H; Thepchatri, Pahk P; Smith, Susan M E SME; Fieschi, Franck F; Stasia, Marie José MJ
Publication Date: 2017-12

Variant appearance in text: NOX2: Ser486Ala
PubMed Link: 28916473
Variant Present in the following documents:
  • Main text
View BVdb publication page



Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research
Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P
Publication Date: 2015

Variant appearance in text: CYBB: 1456T>G
PubMed Link: 26594346
Variant Present in the following documents:
  • f1000research-4-7471.pdf
View BVdb publication page