Basic Information

CR1

Full name: complement C3b/C4b receptor 1 (Knops blood group)

Gene type: protein coding

HGNC ID: HGNC:2334

Gene location: 1q32.2

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/1378

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:2334

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000651.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P17927

AlphaFold: https://alphafold.ebi.ac.uk/entry/P17927

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/120620

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=1378

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+1378

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
CR1	PCV	Missense Variant	rs2274567	A>G	chr1:207580276 (GRCh38.p13)
CR1	PCV	Intron Variant	rs6691117	I (Ile) > V (Val)	chr1:207609586 (GRCh38.p13)
CR1	PCV	Missense Variant	rs3811381	C>A / C>G	chr1:207616743 (GRCh38.p13)