PKD1 c.6275A>G ;(p.Y2092C)

Variant ID: 16-2158893-T-C

NM_001009944.2(PKD1):c.6275A>G;(p.Y2092C)

This variant was identified in 3 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: Y2092C
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: Y2092C
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: Y2092C
PubMed Link: 19759016
Variant Present in the following documents:
  • Main text
  • zbc32942.pdf
View BVdb publication page