Basic Information
IGF1R
Full name: insulin like growth factor 1 receptor
Gene type: protein coding
HGNC ID: HGNC:5465
Gene location: 15q26.3
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/3480
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:5465
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000875.5
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P08069
AlphaFold: https://alphafold.ebi.ac.uk/entry/P08069
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa01521+3480
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
IGF1R | drusen | Intron Variant | rs2872060 | G>A / G>C / G>T | chr15:98956264 (GRCh38.p13) |