| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1839 |
Name | HBEGF |
Synonymous | heparin-binding EGF-like growth factor;HBEGF;heparin-binding EGF-like growth factor |
Definition | diphtheria toxin receptor (heparin-binding EGF-like growth factor)|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)|heparin-binding epidermal growth factor|proheparin-binding EGF-like growth factor |
Position | 5q23 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.347G>A; p.C116Y; 5:140342686-140342686 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.250G>A; p.A84T; 5:140342783-140342783 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.444C>T; p.L148L; 5:140335982-140335982 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.466A>G; p.T156A; 5:140335960-140335960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.382C>T; p.R128W; 5:140342651-140342651 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.382C>T; p.R128W; 5:140342651-140342651 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.372G>A; p.V124V; 5:140342661-140342661 |
breast | carcinoma | Substitution - coding silent |
c.324T>C; p.C108C; 5:140342709-140342709 |
breast | carcinoma | Substitution - coding silent |
c.285G>C; p.K95N; 5:140342748-140342748 |
breast | carcinoma | Substitution - Missense |
c.621C>T; p.S207S; 5:140334682-140334682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.621C>T; p.S207S; 5:140334682-140334682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.273C>T; p.H91H; 5:140342760-140342760 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.231C>T; p.S77S; 5:140342802-140342802 |
skin | malignant_melanoma | Substitution - coding silent |
c.225T>C; p.T75T; 5:140342808-140342808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.561T>C; p.H187H; 5:140334742-140334742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.555-2A>G; p.?; 5:140334750-140334750 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.131C>T; p.T44I; 5:140346000-140346000 |
skin | malignant_melanoma | Substitution - Missense |
c.468C>A; p.T156T; 5:140335958-140335958 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.22G>A; p.V8M; 5:140346307-140346307 |
ovary | other; neoplasm | Substitution - Missense |
c.22G>A; p.V8M; 5:140346307-140346307 |
ovary | other; neoplasm | Substitution - Missense |
c.568G>T; p.G190*; 5:140334735-140334735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.171G>A; p.R57R; 5:140345960-140345960 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.232T>C; p.S78P; 5:140342801-140342801 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.118C>T; p.P40S; 5:140346013-140346013 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.328C>T; p.R110W; 5:140342705-140342705 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>A; p.G180R; 5:140335888-140335888 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.491C>G; p.A164G; 5:140335935-140335935 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>A; p.S78S; 5:140342799-140342799 |
thyroid | other; neoplasm | Substitution - coding silent |
c.160G>A; p.G54R; 5:140345971-140345971 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |