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Symbol report for NHLRC1

Stable symbol

HGNC data for NHLRC1

Approved symbol
NHLRC1
Approved name

NHL repeat containing E3 ubiquitin protein ligase 1

Locus type
gene with protein product
HGNC ID
HGNC:21576
Symbol status
Approved
Previous names
NHL repeat containing 1
Alias symbols
bA204B7.2
EPM2B
Alias names
epilepsy, progressive myoclonus type 2B
malin
Chromosomal location
6p22.3
Gene groups
Gene resources for NHLRC1
Ensembl
ENSG00000187566 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
378884 Curated
UCSC
uc003ncl.2
Alliance of Genome Resources
HGNC:21576
Nucleotide resources for NHLRC1
MANE Select
NM_198586.3
ENST00000340650.6
INSDC
AY324849 Curated
ENAGenBankDDBJ
RefSeq
NM_198586
NCBI sequence viewer
CCDS
CCDS4542 Curated
Protein resources for NHLRC1
UniProt/Swiss-Prot
Q6VVB1
InterProPDBeReactome
AlphaFold
AF-Q6VVB1-F1
Orthologs from selected species for NHLRC1
Bos taurus
NHLRC1 VGNC:32067 VGNC
Canis familiaris
NHLRC1 VGNC:43800 VGNC
Equus caballus
NHLRC1 VGNC:20731 VGNC
Felis catus
NHLRC1 VGNC:63796 VGNC
Macaca mulatta
NHLRC1 VGNC:75229 VGNC
Mus musculus
Nhlrc1 MGI:2145264 Curated
Pan troglodytes
NHLRC1 VGNC:3589 VGNC
Rattus norvegicus
Nhlrc1 RGD:735081
Clinical resources for NHLRC1
OMIM
608072
GenCC
HGNC:21576
MedlinePlus
Search via NHLRC1
DECIPHER
Search via NHLRC1
ClinGen
Search via HGNC:21576
Genetic Testing Registry
Search via NCBI Gene ID 378884
ClinVar
Search via NCBI Gene ID 378884
dbVar
Search via NCBI Gene ID 378884
Orphanet
123779
Other resources for NHLRC1
AmiGO
Search via Q6VVB1
QuickGO
Search via Q6VVB1
BioGPS
Search via NCBI Gene ID 378884
GeneCards
Search via HGNC:21576
Monarch
Search via HGNC:21576
WikiGenes
Search via NCBI Gene ID 378884
References for NHLRC1