CALR c.809A>C ;(p.E270A)

Variant ID: 19-13051461-A-C

NM_004343.3(CALR):c.809A>C;(p.E270A)

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:

Activity-Dependent Inhibitory Synapse Scaling Is Determined by Gephyrin Phosphorylation and Subsequent Regulation of GABAA Receptor Diffusion.

Eneuro
Battaglia, Sereina S; Renner, Marianne M; Russeau, Marion M; Côme, Etienne E; Tyagarajan, Shiva K SK; Lévi, Sabine S
Publication Date: 2018

Variant appearance in text: SSA: E270A
PubMed Link: 29379879
Variant Present in the following documents:
  • Main text
View BVdb publication page