CYBB c.286_287delinsGC ;(p.R96A)

Variant ID: X-37651261-AG-GC

NM_000397.3(CYBB):c.286_287delinsGC;(p.R96A)

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:

GSK3β-SCFFBXW7α mediated phosphorylation and ubiquitination of IRF1 are required for its transcription-dependent turnover.

Nucleic Acids Research
Garvin, Alexander J AJ; Khalaf, Ahmed H A AHA; Rettino, Alessandro A; Xicluna, Jerome J; Butler, Laura L; Morris, Joanna R JR; Heery, David M DM; Clarke, Nicole M NM
Publication Date: 2019-05-21

Variant appearance in text: CYBB: R96A
PubMed Link: 30854564
Variant Present in the following documents:
  • gkz163.pdf
View BVdb publication page