PRRT2 c.253_254delinsGA ;(p.T85E)

Variant ID: 16-29824628-AC-GA

NM_145239.2(PRRT2):c.253_254delinsGA;(p.T85E)

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:

Identification and functional characterization of phosphorylation sites on GTP cyclohydrolase I.

Arteriosclerosis, Thrombosis, And Vascular Biology
Du, Jianhai J; Wei, Na N; Xu, Hao H; Ge, Ying Y; Vásquez-Vivar, Jeannette J; Guan, Tongju T; Oldham, Keith T KT; Pritchard, Kirkwood A KA; Shi, Yang Y
Publication Date: 2009-12

Variant appearance in text: PKC: T85E
PubMed Link: 19762783
Variant Present in the following documents:
  • Main text
View BVdb publication page