PRRT2 c.74C>T ;(p.P25L)

Variant ID: 16-29824449-C-T

NM_145239.2(PRRT2):c.74C>T;(p.P25L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Photoreceptors in a mouse model of Leigh syndrome are capable of normal light-evoked signaling.

The Journal Of Biological Chemistry
Gospe, Sidney M SM; Travis, Amanda M AM; Kolesnikov, Alexander V AV; Klingeborn, Mikael M; Wang, Luyu L; Kefalov, Vladimir J VJ; Arshavsky, Vadim Y VY
Publication Date: 2019-08-16

Variant appearance in text: PKC: P25L
PubMed Link: 31248988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PKC: P25L
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page