PKD1 c.796C>T ;(p.Q266*)

Variant ID: 16-2168197-G-A

NM_001009944.2(PKD1):c.796C>T;(p.Q266*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PKD1: 796C>T; Q266*
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genomics Integration Into Nephrology Practice.

Kidney Medicine
Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC
Publication Date: 2021

Variant appearance in text: PKD1: 796C>T
PubMed Link: 34746741
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: 796C>T; Gln266X
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Irazabal, Maria V MV; Huston, John J; Kubly, Vickie V; Rossetti, Sandro S; Sundsbak, Jamie L JL; Hogan, Marie C MC; Harris, Peter C PC; Brown, Robert D RD; Torres, Vicente E VE
Publication Date: 2011-06

Variant appearance in text: PKD1: Q266X
PubMed Link: 21551026
Variant Present in the following documents:
  • Main text
View BVdb publication page