PKD1 c.9047A>G ;(p.Q3016R)

Variant ID: 16-2152536-T-C

NM_001009944.2(PKD1):c.9047A>G;(p.Q3016R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Gαi-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation.

Scientific Reports
Kwak, Misun M; Hong, Chansik C; Myeong, Jongyun J; Park, Eunice Yon June EYJ; Jeon, Ju-Hong JH; So, Insuk I
Publication Date: 2018-02-22

Variant appearance in text: PKD1: Q3016R
PubMed Link: 29472562
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21873.pdf
View BVdb publication page



Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: PKD1: Gln3016Arg
PubMed Link: 27499327
Variant Present in the following documents:
  • Main text
  • srep30850.pdf
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: Q3016R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PKD1: Q3016R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.

Human Molecular Genetics
Foy, Rebecca L RL; Chitalia, Vipul C VC; Panchenko, Maria V MV; Zeng, Liling L; Lopez, Delia D; Lee, Jean W JW; Rana, Shaunak V SV; Boletta, Alessandra A; Qian, Feng F; Tsiokas, Leonidas L; Piontek, Klaus B KB; Germino, Gregory G GG; Zhou, Mina I MI; Cohen, Herbert T HT
Publication Date: 2012-12-15

Variant appearance in text: PKD1: Q3016R
PubMed Link: 23001567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 9047A>G; Gln3016Arg
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis.

The Embo Journal
Araç, Demet D; Boucard, Antony A AA; Bolliger, Marc F MF; Nguyen, Jenna J; Soltis, S Michael SM; Südhof, Thomas C TC; Brunger, Axel T AT
Publication Date: 2012-03-21

Variant appearance in text: PKD1: Q3016R
PubMed Link: 22333914
Variant Present in the following documents:
  • emboj201226s1.pdf
  • emboj201226a.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: PKD1: Q3016R
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 5
View BVdb publication page



Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Molecular Genetics And Metabolism
Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ
Publication Date: 2007

Variant appearance in text: PKD1: Q3016R
PubMed Link: 17574468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Qian, Feng F; Boletta, Alessandra A; Bhunia, Anil K AK; Xu, Hangxue H; Liu, Lijuan L; Ahrabi, Ali K AK; Watnick, Terry J TJ; Zhou, Fang F; Germino, Gregory G GG
Publication Date: 2002-12-24

Variant appearance in text: PKD1: Q3016R
PubMed Link: 12482949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics
Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC
Publication Date: 2001-01

Variant appearance in text: PKD1: Q3016R
PubMed Link: 11115377
Variant Present in the following documents:
  • Main text
View BVdb publication page