PKD1 c.7268C>T ;(p.S2423F)

Variant ID: 16-2156620-G-A

NM_001009944.2(PKD1):c.7268C>T;(p.S2423F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: S2423F
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: S2423F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).

Current Hypertension Reviews
Rossetti, Sandro S; Harris, Peter C PC
Publication Date: 2013-02

Variant appearance in text: PKD1: Ser2423Phe
PubMed Link: 23971643
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: 7268C>T; Ser2423Phe
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: S2423F
PubMed Link: 21551026
Variant Present in the following documents:
  • Main text
View BVdb publication page