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PKD1 c.12463T>G ;(p.F4155V)
Variant ID: 16-2140177-A-C
NM_001009944.2(
PKD1
):c.12463T>G;(p.F4155V)
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:
Protein phosphatase 1α interacts with a novel ciliary targeting sequence of polycystin-1 and regulates polycystin-1 trafficking.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Luo, Chong C; Wu, Maoqing M; Su, Xuefeng X; Yu, Fangyan F; Brautigan, David L DL; Chen, Jianghua J; Zhou, Jing J
Publication Date: 2019-09
Variant appearance in text: PKD1: F4155V
PubMed Link:
31157564
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: PKD1: F4155V
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.
Human Molecular Genetics
Streets, Andrew J AJ; Wessely, Oliver O; Peters, Dorien J M DJ; Ong, Albert C M AC
Publication Date: 2013-05-15
Variant appearance in text: PKD1: F4155V
PubMed Link:
23390129
Variant Present in the following documents:
Main text
View BVdb publication page