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.




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