The CAV1 gene homepage

General information
Gene symbol CAV1
Gene name caveolin 1, caveolae protein, 22kDa
Chromosome 7
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_012051.1
Transcript reference NM_001753.4
Associated with diseases CGL3, FPLD7, PPH3
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 12
Unique public DNA variants reported 10
Individuals with public variants 0
Hidden variants -
Date created May 03, 2013
Date last updated January 11, 2023
Version CAV1:230111

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 1527
Entrez Gene 857
PubMed articles CAV1
OMIM - Gene 601047
OMIM - Diseases CGL3 (lipodystrophy, congenital generalized, type 3 (CGL-3))
FPLD7 (lipodystrophy, familial partial, type 7)
PPH3 (hypertension, pulmonary, primary, type 3 (PPH-3))
Orphanet CAV1

Active transcripts




NCBI ID     

NCBI Protein ID     

00004405 7 transcript variant 1 NM_001753.4 NP_001744.2 12

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