Bibliome.ai browser hg19
Search
About
Stats
FAQ
PRRT2 c.225G>A ;(p.P75=)
Variant ID: 16-29824600-G-A
NM_145239.2(
PRRT2
):c.225G>A;(p.P75=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
IFITMs restrict the replication of multiple pathogenic viruses.
Journal Of Molecular Biology
Perreira, Jill M JM; Chin, Christopher R CR; Feeley, Eric M EM; Brass, Abraham L AL
Publication Date: 2013-12-13
Variant appearance in text: rs199662641
PubMed Link:
24076421
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Neurology
Gardiner, Alice R AR; Bhatia, Kailash P KP; Stamelou, Maria M; Dale, Russell C RC; Kurian, Manju A MA; Schneider, Susanne A SA; Wali, G M GM; Counihan, Tim T; Schapira, Anthony H AH; Spacey, Sian D SD; Valente, Enza-Maria EM; Silveira-Moriyama, Laura L; Teive, Hélio A G HA; Raskin, Salmo S; Sander, Josemir W JW; Lees, Andrew A; Warner, Tom T; Kullmann, Dimitri M DM; Wood, Nicholas W NW; Hanna, Michael M; Houlden, Henry H
Publication Date: 2012-11-20
Variant appearance in text: PRRT2: P75P
PubMed Link:
23077024
Variant Present in the following documents:
Main text
View BVdb publication page
Vitamin E sensitive genes in the developing rat fetal brain: a high-density oligonucleotide microarray analysis.
Febs Letters
Roy, Sashwati S; Lado, Beatrice H BH; Khanna, Savita S; Sen, Chandan K CK
Publication Date: 2002-10-23
Variant appearance in text: PKC: p75=
PubMed Link:
12387859
Variant Present in the following documents:
Main text
View BVdb publication page