TRPV3 gene homepage

General information
Gene symbol TRPV3
Gene name transient receptor potential cation channel, subfamily V, member 3
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_032144.2
Transcript reference NM_145068.3
Exon/intron information NM_145068.3 exon/intron table
Associated with diseases FNEPPK-2, OLMS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 24
Unique public DNA variants reported 24
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 09, 2012
Date last updated September 01, 2017
Version TRPV3:170901

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_145068.3.
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 https://www.LOVD.nl/TRPV3
External URL Orphanet
HGNC 18084
Entrez Gene 162514
PubMed articles TRPV3
OMIM - Gene 607066
OMIM - Diseases FNEPPK-2 (keratoderma, palmoplantar?, nonepidermolytic, focal, type 2 (FNEPPK-2))
OLMS (keratoderma, palmoplantar, mutilating, with periorificial keratotic plaques (Olmsted syndrome (OLMS)))
HGMD TRPV3
GeneCards TRPV3
GeneTests TRPV3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021918 17 transcript variant 2 NM_145068.3 NP_659505.1 24


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