CYBB c.1285_1286delinsGC ;(p.N429A)

Variant ID: X-37664392-AA-GC

NM_000397.3(CYBB):c.1285_1286delinsGC;(p.N429A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: N429A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Identification of a conserved Rac-binding site on NADPH oxidases supports a direct GTPase regulatory mechanism.

The Journal Of Biological Chemistry
Kao, Yu-Ya YY; Gianni, Davide D; Bohl, Benjamin B; Taylor, Ross M RM; Bokoch, Gary M GM
Publication Date: 2008-05-09

Variant appearance in text: CGD: N429A
PubMed Link: 18347018
Variant Present in the following documents:
  • Main text
View BVdb publication page