PKD1 c.9361G>A ;(p.E3121K)

Variant ID: 16-2152098-C-T

NM_001009944.2(PKD1):c.9361G>A;(p.E3121K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.

Molecular Medicine Reports
Dong, Kexian K; Miao, Huanhuan H; Jia, Xueyuan X; Wu, Jie J; Wu, Han H; Sun, Jiawei J; Ji, Wei W; Su, Hui H; Xu, Lidan L; Zhang, Xuelong X; Zhu, Siqi S; Ji, Guohua G; Guan, Rongwei R; Wang, Hao H; Bai, Jing J; Yu, Jingcui J; Sun, Wenjing W; Zhou, Xianli X; Fu, Songbin S
Publication Date: 2019-04

Variant appearance in text: PKD1: E3121K
PubMed Link: 30720121
Variant Present in the following documents:
  • Main text
  • mmr-19-04-2671.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: Glu3121Lys
PubMed Link: 27499327
Variant Present in the following documents:
  • Main text
  • srep30850.pdf
View BVdb publication page



The Polycystin-1, Lipoxygenase, and α-Toxin Domain Regulates Polycystin-1 Trafficking.

Journal Of The American Society Of Nephrology : Jasn
Xu, Yaoxian Y; Streets, Andrew J AJ; Hounslow, Andrea M AM; Tran, Uyen U; Jean-Alphonse, Frederic F; Needham, Andrew J AJ; Vilardaga, Jean-Pierre JP; Wessely, Oliver O; Williamson, Michael P MP; Ong, Albert C M AC
Publication Date: 2016-04

Variant appearance in text: PKD1: E3121K
PubMed Link: 26311459
Variant Present in the following documents:
  • Main text
View BVdb publication page