PRRT2 c.833G>C ;(p.C278S)

Variant ID: 16-29825208-G-C

NM_145239.2(PRRT2):c.833G>C;(p.C278S)

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:

The Ca2+ affinity of synaptotagmin 1 is markedly increased by a specific interaction of its C2B domain with phosphatidylinositol 4,5-bisphosphate.

The Journal Of Biological Chemistry
Radhakrishnan, Anand A; Stein, Alexander A; Jahn, Reinhard R; Fasshauer, Dirk D
Publication Date: 2009-09-18

Variant appearance in text: PKC: C278S
PubMed Link: 19632983
Variant Present in the following documents:
  • Main text
View BVdb publication page