PRRT2 c.679_680delinsGA ;(p.R227E)

Variant ID: 16-29825054-CG-GA

NM_145239.2(PRRT2):c.679_680delinsGA;(p.R227E)

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:

Ca2+ releases E-Syt1 autoinhibition to couple ER-plasma membrane tethering with lipid transport.

The Embo Journal
Bian, Xin X; Saheki, Yasunori Y; De Camilli, Pietro P
Publication Date: 2018-01-17

Variant appearance in text: PKC: R227E
PubMed Link: 29222176
Variant Present in the following documents:
  • Main text
View BVdb publication page