Basic Information
APOE
Full name: apolipoprotein E
Gene type: protein coding
HGNC ID: HGNC:613
Gene location: 19q13.32
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/348
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:613
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000041.4
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P02649
AlphaFold: https://alphafold.ebi.ac.uk/entry/P02649
MEME motif:
Clinical resources
Pathway resources
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
APOE | Early AMD | Missense Variant | rs429358 | T>C | chr19:44908684 (GRCh38.p13) |
APOE | Early AMD | Missense Variant | rs7412 | C>T | chr19:44908822 (GRCh38.p13) |
APOE | AMD | 2KB Upstream Variant | rs769446 | T>C | chr19:44905371 (GRCh38.p13) |
APOE | AMD | 2KB Upstream Variant | rs405509 | G>T | chr19:44905579 (GRCh38.p13) |
APOE | AMD | missense Variant | rs440446 | C>G / C>T | chr19:44905910 (GRCh38.p13) |
APOE | AMD | Intron Variant | rs769449 | G>A | chr19:44906745 (GRCh38.p13) |
APOE | AMD | Intron Variant | rs769450 | G>A | chr19:44907187 (GRCh38.p13) Help |
APOE | AMD | rs439401 | C>T | chr19:44911194 (GRCh38.p13) | |
APOE | VA improvement after anti-VEGF | Missense Variant | rs429358, rs7412 | T>C;C>T | chr19:44908684 (GRCh38.p13) |