CYBB c.1111T>C ;(p.C371R)

Variant ID: X-37663343-T-C

NM_000397.3(CYBB):c.1111T>C;(p.C371R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The dehydrogenase region of the NADPH oxidase component Nox2 acts as a protein disulfide isomerase (PDI) resembling PDIA3 with a role in the binding of the activator protein p67 (phox.).

Frontiers In Chemistry
Bechor, Edna E; Dahan, Iris I; Fradin, Tanya T; Berdichevsky, Yevgeny Y; Zahavi, Anat A; Federman Gross, Aya A; Rafalowski, Meirav M; Pick, Edgar E
Publication Date: 2015

Variant appearance in text: CGD: C371R
PubMed Link: 25699251
Variant Present in the following documents:
  • Main text
  • fchem-03-00003.pdf
View BVdb publication page