Basic Information

CFB

Full name: complement factor B

Gene type: protein coding

HGNC ID: HGNC:1037

Gene location: 6p21.33

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/629

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1037

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001710.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P00751

AlphaFold: https://alphafold.ebi.ac.uk/entry/P00751

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/138470

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=629

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+629

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
CFB Missense Variant rs4151659 A>G chr6:31950687 (GRCh38.p13)
CFB Intron Variant rs2072633 A>G chr6:31951801 (GRCh38.p13)
CFB AMD stage 1→2 Missense Variant rs641153 G>A / G>T chr6:31946403 (GRCh38.p13)
CFB excudative AMD Missense Variant rs117314762 G>A chr6:31946529 (GRCh38.p13)
CFB Advanced AMD Intron Variant rs541862 T>C chr6:31949174 (GRCh38.p13)
CFB 3 Prime UTR Variant rs4151672 C>G / C>T chr6:31952053 (GRCh38.p13)
CFB FUNCTIONAL RESPONSE Missense Variant rs12614 C>G / C>T chr6:31946402 (GRCh38.p13)
CFB rs12614, rs641153
CFB 500B Downstream Variant rs522162 T>C chr6:31952140 (GRCh38.p13)
CFB AMD Synonymous Variant rs1048709 A>G / A>T chr6:31947158 (GRCh38.p13)
CFB AMD Synonymous Variant rs4151669 G>A chr6:31947367 (GRCh38.p13)
CFB AMD Synonymous Variant rs4151670 C>T chr6:31947755 (GRCh38.p13)
CFB AMD Missense Variant rs4151651 G>A / G>T chr6:31947837 (GRCh38.p13)
CFB AMD N/A rs1838994 T>A / T>C chr2:204447523 (GRCh38.p13)
CFB AMD rs12614; rs64115; rs641153
CFB nAMD 500B Downstream Variant rs760070 T>C chr6:31952179 (GRCh38.p13)
CFB nAMD 500B Downstream Variant rs3880457 T>C chr6:31952442 (GRCh38.p13)