| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2784 |
Name | GNB3 |
Synonymous | guanine nucleotide binding protein (G protein), beta polypeptide 3;GNB3;guanine nucleotide binding protein (G protein), beta polypeptide 3 |
Definition | G protein, beta-3 subunit|GTP-binding regulatory protein beta-3 chain|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3|hypertension associated protein|transducin beta chain 3 |
Position | 12p13 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.388G>T; p.E130*; 12:6843483-6843483 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.431-2A>T; p.?; 12:6843630-6843630 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.778G>A; p.E260K; 12:6845664-6845664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.680C>G; p.S227W; 12:6843959-6843959 |
skin | malignant_melanoma | Substitution - Missense |
c.15G>A; p.E5E; 12:6841302-6841302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.929G>C; p.G310A; 12:6846804-6846804 |
thyroid | other; neoplasm | Substitution - Missense |
c.822G>A; p.T274T; 12:6845708-6845708 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.367A>G; p.I123V; 12:6843462-6843462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.226G>T; p.D76Y; 12:6843196-6843196 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.959T>C; p.V320A; 12:6846834-6846834 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.959T>C; p.V320A; 12:6846834-6846834 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>C; p.A24P; 12:6841598-6841598 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766C>G; p.R256G; 12:6845652-6845652 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.969C>T; p.D323D; 12:6846844-6846844 |
skin | malignant_melanoma | Substitution - coding silent |
c.383C>T; p.S128F; 12:6843478-6843478 |
skin | malignant_melanoma | Substitution - Missense |
c.873C>T; p.D291D; 12:6845759-6845759 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.794C>T; p.S265F; 12:6845680-6845680 |
skin | malignant_melanoma | Substitution - Missense |
c.597C>T; p.F199F; 12:6843876-6843876 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.867C>T; p.Y289Y; 12:6845753-6845753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.848G>A; p.R283H; 12:6845734-6845734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240C>T; p.I80I; 12:6843210-6843210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.410G>A; p.R137Q; 12:6843505-6843505 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.848G>A; p.R283H; 12:6845734-6845734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>A; p.R283H; 12:6845734-6845734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.848G>A; p.R283H; 12:6845734-6845734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.220T>G; p.S74A; 12:6843190-6843190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.842G>A; p.S281N; 12:6845728-6845728 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.875T>C; p.F292S; 12:6845761-6845761 |
thyroid | other; neoplasm | Substitution - Missense |
c.457G>T; p.D153Y; 12:6843658-6843658 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.921C>T; p.I307I; 12:6846796-6846796 |
breast | carcinoma | Substitution - coding silent |
c.512T>G; p.I171S; 12:6843791-6843791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.825C>T; p.S275S; 12:6845711-6845711 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.825C>T; p.S275S; 12:6845711-6845711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687C>G; p.I229M; 12:6843966-6843966 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.799G>A; p.E267K; 12:6845685-6845685 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.525G>A; p.Q175Q; 12:6843804-6843804 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.910C>T; p.R304C; 12:6845796-6845796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.735G>A; p.S245S; 12:6845621-6845621 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528G>A; p.Q176Q; 12:6843807-6843807 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.514G>A; p.E172K; 12:6843793-6843793 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.96+2T>A; p.?; 12:6841626-6841626 |
large_intestine; colon | adenoma | Unknown |
c.762C>T; p.D254D; 12:6845648-6845648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.656G>A; p.R219H; 12:6843935-6843935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.415C>T; p.L139F; 12:6843510-6843510 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.331T>G; p.F111V; 12:6843426-6843426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.S108L; 12:6843418-6843418 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.223C>T; p.Q75*; 12:6843193-6843193 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.149C>T; p.T50M; 12:6843022-6843022 |
breast | carcinoma | Substitution - Missense |
c.634G>A; p.D212N; 12:6843913-6843913 |
skin | malignant_melanoma | Substitution - Missense |
c.742G>A; p.A248T; 12:6845628-6845628 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.221C>T; p.S74L; 12:6843191-6843191 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.311delC; p.Y105fs*54; 12:6843406-6843406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.125G>A; p.R42Q; 12:6842998-6842998 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.12G>A; p.M4I; 12:6841299-6841299 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12G>A; p.M4I; 12:6841299-6841299 |
skin | malignant_melanoma | Substitution - Missense |
c.141G>A; p.T47T; 12:6843014-6843014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.646G>A; p.G216R; 12:6843925-6843925 |
skin | malignant_melanoma | Substitution - Missense |
c.157G>A; p.G53R; 12:6843030-6843030 |
skin | malignant_melanoma | Substitution - Missense |
c.76G>A; p.A26T; 12:6841604-6841604 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.59A>G; p.D20G; 12:6841587-6841587 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.317C>T; p.A106V; 12:6843412-6843412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>G; p.D163G; 12:6843689-6843689 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.28G>A; p.E10K; 12:6841315-6841315 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824C>G; p.S275C; 12:6845710-6845710 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.814G>A; p.G272S; 12:6845700-6845700 |
skin | malignant_melanoma | Substitution - Missense |
c.691G>A; p.A231T; 12:6843970-6843970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.691G>A; p.A231T; 12:6843970-6843970 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.616G>T; p.A206S; 12:6843895-6843895 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.124C>T; p.R42*; 12:6842997-6842997 |
breast | carcinoma | Substitution - Nonsense |
c.124C>T; p.R42*; 12:6842997-6842997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.776A>G; p.Q259R; 12:6845662-6845662 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.132G>A; p.Q44Q; 12:6843005-6843005 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |