GC c.808_810delinsGAG ;(p.S270E)

Variant ID: 4-72623780-AGA-CTC

NM_000583.3(GC):c.808_810delinsGAG;(p.S270E)

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:

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: S270E
PubMed Link: 23408424
Variant Present in the following documents:
  • Main text
View BVdb publication page