| Gene ID | 374 |
| Symbol | AREG |
| Synonymous | AR|AREGB|CRDGF|SDGF |
| Full name | amphiregulin |
| Gene description | amphiregulin B|colorectum cell-derived growth factor|schwannoma-derived growth factor |
| Cytoband | 4q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:104640; HGNC:HGNC:651; Ensembl:ENSG00000109321; HPRD:00093; Vega:OTTHUMG00000130006 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.191C>T; p.S64F; 4:74446663-74446663 |
skin | malignant_melanoma | Substitution - Missense |
c.23C>A; p.P8Q; 4:74445368-74445368 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.268G>A; p.E90K; 4:74446740-74446740 |
skin | malignant_melanoma | Substitution - Missense |
c.268G>A; p.E90K; 4:74446740-74446740 |
skin | malignant_melanoma | Substitution - Missense |
c.268G>A; p.E90K; 4:74446740-74446740 |
skin | malignant_melanoma | Substitution - Missense |
c.268G>A; p.E90K; 4:74446740-74446740 |
skin | malignant_melanoma | Substitution - Missense |
c.457T>C; p.F153L; 4:74449193-74449193 |
skin | malignant_melanoma | Substitution - Missense |
c.109C>T; p.R37C; 4:74446581-74446581 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.43C>G; p.L15V; 4:74445388-74445388 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>T; p.R37C; 4:74446581-74446581 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.107A>G; p.K36R; 4:74446579-74446579 |
skin | malignant_melanoma | Substitution - Missense |
c.176C>T; p.S59L; 4:74446648-74446648 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.308G>T; p.R103I; 4:74446780-74446780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.295G>A; p.D99N; 4:74446767-74446767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.98A>G; p.Y33C; 4:74446570-74446570 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.41C>G; p.S14W; 4:74445386-74445386 |
breast | carcinoma | Substitution - Missense |
c.490C>A; p.H164N; 4:74449226-74449226 |
thyroid | other; neoplasm | Substitution - Missense |
c.344C>T; p.T115M; 4:74449080-74449080 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.531C>T; p.F177F; 4:74450398-74450398 |
breast | carcinoma | Substitution - coding silent |
c.475T>C; p.C159R; 4:74449211-74449211 |
skin | malignant_melanoma | Substitution - Missense |
c.44T>G; p.L15R; 4:74445389-74445389 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |