| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2069 |
Name | EREG |
Synonymous | epiregulin;EREG;epiregulin |
Definition | proepiregulin |
Position | 4q13.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.157C>G; p.Q53E; 4:74381016-74381016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.38G>A; p.G13D; 4:74365346-74365346 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.136G>A; p.D46N; 4:74379516-74379516 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.236G>A; p.G79E; 4:74381095-74381095 |
skin | malignant_melanoma | Substitution - Missense |
c.436A>T; p.N146Y; 4:74384734-74384734 |
skin | malignant_melanoma | Substitution - Missense |
c.189G>A; p.V63V; 4:74381048-74381048 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45C>T; p.V15V; 4:74365353-74365353 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.45C>T; p.V15V; 4:74365353-74365353 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.397G>T; p.V133F; 4:74382763-74382763 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.77T>C; p.L26P; 4:74379457-74379457 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.17G>A; p.R6K; 4:74365325-74365325 |
skin | malignant_melanoma | Substitution - Missense |
c.358G>T; p.A120S; 4:74382724-74382724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.439C>A; p.R147R; 4:74384737-74384737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.411A>C; p.T137T; 4:74382777-74382777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.132_133delCA; p.S45fs*1; 4:74379512-74379513 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.278+1G>A; p.?; 4:74381138-74381138 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.278+1G>A; p.?; 4:74381138-74381138 |
skin | malignant_melanoma | Unknown |
c.374T>G; p.L125R; 4:74382740-74382740 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.482C>T; p.S161L; 4:74384780-74384780 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.126A>T; p.G42G; 4:74379506-74379506 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.91C>T; p.L31F; 4:74379471-74379471 |
skin | malignant_melanoma | Substitution - Missense |
c.91C>T; p.L31F; 4:74379471-74379471 |
skin | malignant_melanoma | Substitution - Missense |
c.124G>T; p.G42*; 4:74379504-74379504 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.367G>T; p.V123L; 4:74382733-74382733 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.434G>A; p.R145K; 4:74384732-74384732 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.459G>A; p.K153K; 4:74384757-74384757 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.366C>A; p.T122T; 4:74382732-74382732 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.233A>G; p.H78R; 4:74381092-74381092 |
pancreas | carcinoma | Substitution - Missense |
c.305G>T; p.R102L; 4:74382671-74382671 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.463G>A; p.E155K; 4:74384761-74384761 |
skin | malignant_melanoma | Substitution - Missense |
c.276C>T; p.C92C; 4:74381135-74381135 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.206G>T; p.S69I; 4:74381065-74381065 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.237A>G; p.G79G; 4:74381096-74381096 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.201G>A; p.K67K; 4:74381060-74381060 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.181G>T; p.A61S; 4:74381040-74381040 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.486G>A; p.G162G; 4:74384784-74384784 |
skin | malignant_melanoma | Substitution - coding silent |
c.486G>A; p.G162G; 4:74384784-74384784 |
skin | malignant_melanoma | Substitution - coding silent |
c.473G>T; p.R158I; 4:74384771-74384771 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473G>T; p.R158I; 4:74384771-74384771 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.439C>T; p.R147*; 4:74384737-74384737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.439C>T; p.R147*; 4:74384737-74384737 |
skin | malignant_melanoma | Substitution - Nonsense |
c.439C>T; p.R147*; 4:74384737-74384737 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.439C>T; p.R147*; 4:74384737-74384737 |
skin | malignant_melanoma | Substitution - Nonsense |
c.125G>C; p.G42A; 4:74379505-74379505 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.68-1G>A; p.?; 4:74379447-74379447 |
liver | carcinoma | Unknown |
c.68-1G>A; p.?; 4:74379447-74379447 |
liver | carcinoma | Unknown |
c.295A>T; p.T99S; 4:74382661-74382661 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.304C>T; p.R102*; 4:74382670-74382670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |