CYBB c.1183_1184delinsGC ;(p.S395A)

Variant ID: X-37664290-AG-GC

NM_000397.3(CYBB):c.1183_1184delinsGC;(p.S395A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Inhibiting O-GlcNAcylation impacts p38 and Erk1/2 signaling and perturbs cardiomyocyte hypertrophy.

The Journal Of Biological Chemistry
Papanicolaou, Kyriakos N KN; Jung, Jessica J; Ashok, Deepthi D; Zhang, Wenxi W; Modaressanavi, Amir A; Avila, Eddie E; Foster, D Brian DB; Zachara, Natasha E NE; O'Rourke, Brian B
Publication Date: 2023-01-12

Variant appearance in text: NOX2: S395A
PubMed Link: 36642184
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nuclear envelope rupture and NET formation is driven by PKCα-mediated lamin B disassembly.

Embo Reports
Li, Yubin Y; Li, Minghui M; Weigel, Bettina B; Mall, Moritz M; Werth, Victoria P VP; Liu, Ming-Lin ML
Publication Date: 2020-08-05

Variant appearance in text: NOX2: S395A
PubMed Link: 32537912
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S395A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page