View PKD1 gene homepage

General information
Gene symbol PKD1
Gene name polycystin 1, transient receptor potential channel interacting
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_008617.1
Transcript reference NM_000296.3, NM_001009944.2, XM_005255370.2, XM_011522525.1, XM_011522526.1, XM_011522527.1, XM_011522528.1, XM_011522529.1, XM_011522530.1, XM_011522531.1, XM_011522532.1, XM_011522533.1, XM_011522534.1, XM_011522535.1, XM_011522536.1, XM_011522537.1, XR_932867.1, XR_932868.1, XR_932869.1, XR_932870.1
Associated with diseases -
Citation reference(s) -
Curators (1) Georgia Charalambous
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created September 19, 2017
Date last updated September 20, 2017
Version PKD1:170920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9008
Entrez Gene 5310
PubMed articles PKD1
OMIM - Gene 601313


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000295 16 polycystic kidney disease 1 (autosomal dominant), transcript variant 2 NM_000296.3 NP_000287.3 1
00000296 16 polycystic kidney disease 1 (autosomal dominant), transcript variant 1 NM_001009944.2 NP_001009944.2 0
00000297 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X18 XM_005255370.2 XP_005255427.1 0
00000298 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X1 XM_011522525.1 XP_011520827.1 0
00000299 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X2 XM_011522526.1 XP_011520828.1 0
00000300 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X3 XM_011522527.1 XP_011520829.1 0
00000301 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X4 XM_011522528.1 XP_011520830.1 0
00000302 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X5 XM_011522529.1 XP_011520831.1 0
00000303 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X6 XM_011522530.1 XP_011520832.1 0
00000304 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X7 XM_011522531.1 XP_011520833.1 0
00000305 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X8 XM_011522532.1 XP_011520834.1 0
00000306 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X9 XM_011522533.1 XP_011520835.1 0
00000307 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X10 XM_011522534.1 XP_011520836.1 0
00000308 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X15 XM_011522535.1 XP_011520837.1 0
00000309 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X16 XM_011522536.1 XP_011520838.1 0
00000310 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X17 XM_011522537.1 XP_011520839.1 0
00000311 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X11 XR_932867.1 - 0
00000312 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X12 XR_932868.1 - 0
00000313 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X13 XR_932869.1 - 0
00000314 16 polycystic kidney disease 1 (autosomal dominant), transcript variant X14 XR_932870.1 - 0


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.