GC c.802_804delinsGAG ;(p.S268E)

Variant ID: 4-72623786-AGA-CTC

NM_000583.3(GC):c.802_804delinsGAG;(p.S268E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A DARPin-based molecular toolset to probe gephyrin and inhibitory synapse biology.

Elife
Campbell, Benjamin F N BFN; Dittmann, Antje A; Dreier, Birgit B; Plückthun, Andreas A; Tyagarajan, Shiva K SK
Publication Date: 2022-10-31

Variant appearance in text: GC: S268E
PubMed Link: 36314779
Variant Present in the following documents:
  • Main text
  • elife-80895.pdf
View BVdb publication page



Extracellular signal-regulated kinase and glycogen synthase kinase 3β regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism.

The Journal Of Biological Chemistry
Tyagarajan, Shiva K SK; Ghosh, Himanish H; Yévenes, Gonzalo E GE; Imanishi, Susumu Y SY; Zeilhofer, Hanns Ulrich HU; Gerrits, Bertran B; Fritschy, Jean-Marc JM
Publication Date: 2013-04-05

Variant appearance in text: GC: S268E
PubMed Link: 23408424
Variant Present in the following documents:
  • Main text
View BVdb publication page