PRRT2 c.958_959delinsAG ;(p.A320R)

Variant ID: 16-29825732-GC-AG

NM_145239.2(PRRT2):c.958_959delinsAG;(p.A320R)

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:

HOIL-1 ubiquitin ligase activity targets unbranched glucosaccharides and is required to prevent polyglucosan accumulation.

The Embo Journal
Kelsall, Ian R IR; McCrory, Elisha H EH; Xu, Yingqi Y; Scudamore, Cheryl L CL; Nanda, Sambit K SK; Mancebo-Gamella, Paula P; Wood, Nicola T NT; Knebel, Axel A; Matthews, Stephen J SJ; Cohen, Philip P
Publication Date: 2022-04-19

Variant appearance in text: PKC: Ala320Arg
PubMed Link: 35274759
Variant Present in the following documents:
  • Main text
  • EMBJ-41-e109700.pdf
View BVdb publication page