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PRRT2 c.35A>G ;(p.K12R)
Variant ID: 16-29824410-A-G
NM_145239.2(
PRRT2
):c.35A>G;(p.K12R)
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:
Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.
Nature Communications
Zhang, Chi C; Lai, Maria B MB; Khandan, Lavan L; Lee, Lindsey A LA; Chen, Zhe Z; Junge, Harald J HJ
Publication Date: 2017-07-04
Variant appearance in text: PKC: K12R
PubMed Link:
28675177
Variant Present in the following documents:
Main text
ncomms16050.pdf
View BVdb publication page
Protein lysine acetylation by p300/CBP.
Chemical Reviews
Dancy, Beverley M BM; Cole, Philip A PA
Publication Date: 2015-03-25
Variant appearance in text: PKC: K12R
PubMed Link:
25594381
Variant Present in the following documents:
Main text
cr500452k.pdf
View BVdb publication page
The dynamic modulation of GABA(A) receptor trafficking and its role in regulating the plasticity of inhibitory synapses.
Physiological Reviews
Vithlani, Mansi M; Terunuma, Miho M; Moss, Stephen J SJ
Publication Date: 2011-07
Variant appearance in text: PKC: K12R
PubMed Link:
21742794
Variant Present in the following documents:
Main text
View BVdb publication page