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Symbol report for CAVIN1

Stable symbol

HGNC data for CAVIN1

Approved symbol
CAVIN1
Approved name

caveolae associated protein 1

Locus type
gene with protein product
HGNC ID
HGNC:9688
Symbol status
Approved
Previous symbols
PTRF
Previous names
polymerase I and transcript release factor
Alias symbols
cavin-1
CGL4
Alias names
congenital generalized lipodystrophy 4
Chromosomal location
17q21.2
Gene groups
Gene resources for CAVIN1
Ensembl
ENSG00000177469 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
284119 Curated
UCSC
uc002hzo.4
Alliance of Genome Resources
HGNC:9688
Nucleotide resources for CAVIN1
MANE Select
NM_012232.6
ENST00000357037.6
INSDC
AF000421 Curated
ENAGenBankDDBJ
RefSeq
NM_012232 Curated
NCBI sequence viewer
CCDS
CCDS11425 Curated
Protein resources for CAVIN1
UniProt/Swiss-Prot
Q6NZI2
InterProPDBeReactome
AlphaFold
AF-Q6NZI2-F1
Orthologs from selected species for CAVIN1
Bos taurus
CAVIN1 VGNC:26802 VGNC
Canis familiaris
CAVIN1 VGNC:38754 VGNC
Equus caballus
CAVIN1 VGNC:16088 VGNC
Felis catus
CAVIN1 VGNC:98771 VGNC
Macaca mulatta
CAVIN1 VGNC:104591 VGNC
Mus musculus
Cavin1 MGI:1277968 Curated
Pan troglodytes
CAVIN1 VGNC:48941 VGNC
Rattus norvegicus
Cavin1 RGD:1307685
Sus scrofa
CAVIN1 VGNC:86217 VGNC
Clinical resources for CAVIN1
OMIM
603198
LSDB
Leiden Muscular Dystrophy pages Curated
GenCC
HGNC:9688
MedlinePlus
Search via CAVIN1
DECIPHER
Search via CAVIN1
ClinGen
Search via HGNC:9688
Genetic Testing Registry
Search via NCBI Gene ID 284119
ClinVar
Search via NCBI Gene ID 284119
dbVar
Search via NCBI Gene ID 284119
Orphanet
227086
Other resources for CAVIN1
AmiGO
Search via Q6NZI2
QuickGO
Search via Q6NZI2
BioGPS
Search via NCBI Gene ID 284119
GeneCards
Search via HGNC:9688
Monarch
Search via HGNC:9688
WikiGenes
Search via NCBI Gene ID 284119
References for CAVIN1