Basic Information

ESR1

Full name: estrogen receptor 1

Gene type: protein coding

HGNC ID: HGNC:3467

Gene location: 6q25.1-q25.2

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/2099

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:3467

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000125.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P03372

AlphaFold: https://alphafold.ebi.ac.uk/entry/P03372

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/133430

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=2099

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa01522+2099

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
ESR1	AMD	Intron Variant	rs2234693	T>C / T>G	chr6:151842200 (GRCh38.p13)
ESR1	AMD	Intron Variant	rs9340799	A>G	chr6:151842246 (GRCh38.p13)
ESR1	AMD	Synonymous Variant	rs1801132	G>A / G>C / G>T	chr6:151944387 (GRCh38.p13)