PRRT2 c.595G>A ;(p.E199K)

Variant ID: 16-29824970-G-A

NM_145239.2(PRRT2):c.595G>A;(p.E199K)

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:

Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival.

The Journal Of Biological Chemistry
Machado, Cleiton F CF; Beraldo, Flavio H FH; Santos, Tiago G TG; Bourgeon, Dominique D; Landemberger, Michele C MC; Roffé, Martin M; Martins, Vilma R VR
Publication Date: 2012-12-21

Variant appearance in text: PKC: E199K
PubMed Link: 23132868
Variant Present in the following documents:
  • Main text
View BVdb publication page