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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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