The C2orf71 gene homepage

NOTE: gene symbol was recently changed from C2orf71 to PCARE. This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol C2orf71
Gene name chromosome 2 open reading frame 71
Chromosome 2
Chromosomal band p23.2
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001029883.2
Exon/intron information NM_001029883.2 exon/intron table
Associated with diseases RP54
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 234
Unique public DNA variants reported 143
Individuals with public variants 3886
Hidden variants 13
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from C2orf71 to PCARE.
This database is one of the "Eye disease" gene variant databases.
Date created June 01, 2010
Date last updated March 04, 2021
Version C2orf71:210304

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001029883.2.
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
Homepage URL http://www.LOVD.nl/PCARE
External URL Orphanet
HGNC 34383
Entrez Gene 388939
PubMed articles C2orf71
OMIM - Gene 613425
OMIM - Diseases RP54 (retinitis pigmentosa, type 54 (RP54))
HGMD C2orf71
GeneCards C2orf71
GeneTests C2orf71
Orphanet C2orf71


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003690 2 chromosome 2 open reading frame 71 NM_001029883.2 NP_001025054.1 234


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 © 2010-2021. 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.