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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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