PKD1 c.303C>G ;(p.N101K)

Variant ID: 16-2169171-G-C

NM_001009944.2(PKD1):c.303C>G;(p.N101K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 303C>G; Asn101Lys
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s6.xls, sheet 1
View BVdb publication page



Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Journal Of The American Society Of Nephrology : Jasn
Hogan, Marie C MC; Bakeberg, Jason L JL; Gainullin, Vladimir G VG; Irazabal, Maria V MV; Harmon, Amber J AJ; Lieske, John C JC; Charlesworth, M Cristine MC; Johnson, Kenneth L KL; Madden, Benjamin J BJ; Zenka, Roman M RM; McCormick, Daniel J DJ; Sundsbak, Jamie L JL; Heyer, Christina M CM; Torres, Vicente E VE; Harris, Peter C PC; Ward, Christopher J CJ
Publication Date: 2015-07

Variant appearance in text: PKD1: N101K
PubMed Link: 25475747
Variant Present in the following documents:
  • Main text
View BVdb publication page