Basic Information

RBPJL

Full name: recombination signal binding protein for immunoglobulin kappa J region like

Gene type: protein coding

HGNC ID: HGNC:13761

Gene location: 20q13.12

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/11317

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:13761

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_014276.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9UBG7

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9UBG7

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/616104

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=11317

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04330+11317

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
RBPJL	AMD	Missense Variant	rs200998587	C>T	chr20:45314116 (GRCh38.p13)