PKD1 c.2899T>A ;(p.W967R)

Variant ID: 16-2163248-A-T

NM_001009944.2(PKD1):c.2899T>A;(p.W967R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One
Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K
Publication Date: 2016

Variant appearance in text: PKD1: W967R
PubMed Link: 27835667
Variant Present in the following documents:
  • Main text
  • pone.0166288.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: W967R
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: W967R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.

The Journal Of Biological Chemistry
Ma, Liang L; Xu, Meixiang M; Forman, Julia R JR; Clarke, Jane J; Oberhauser, Andres F AF
Publication Date: 2009-11-20

Variant appearance in text: PKD1: W967R
PubMed Link: 19759016
Variant Present in the following documents:
  • Main text
  • zbc32942.pdf
View BVdb publication page