PRRT2 c.761C>T ;(p.P254L)

Variant ID: 16-29825136-C-T

NM_145239.2(PRRT2):c.761C>T;(p.P254L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Highlighting the Multifaceted Role of Orai1 N-Terminal- and Loop Regions for Proper CRAC Channel Functions.

Cells
Humer, Christina C; Romanin, Christoph C; Höglinger, Carmen C
Publication Date: 2022-01-22

Variant appearance in text: PKC: P254L
PubMed Link: 35159181
Variant Present in the following documents:
  • Main text
  • cells-11-00371.pdf
View BVdb publication page



Highlighting the Multifaceted Role of Orai1 N-Terminal- and Loop Regions for Proper CRAC Channel Functions.

Cells
Humer, Christina C; Romanin, Christoph C; Höglinger, Carmen C
Publication Date: 2022-01-22

Variant appearance in text: PKC: P254L
PubMed Link: 35159181
Variant Present in the following documents:
  • Main text
  • cells-11-00371.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: PRRT2: 761C>T; P254L
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page