| Gene ID | 1361 |
| Symbol | CPB2 |
| Synonymous | CPU|PCPB|TAFI |
| Full name | carboxypeptidase B2 (plasma) |
| Gene description | carboxypeptidase B-like protein|carboxypeptidase B2|carboxypeptidase B2 (plasma, carboxypeptidase U)|carboxypeptidase R|thrombin-activable fibrinolysis inhibitor|thrombin-activatable fibrinolysis inhibitor |
| Cytoband | 13q14.11 |
| Gene type | protein-coding |
| Synonymous | MIM:603101; HGNC:HGNC:2300; Ensembl:ENSG00000080618; HPRD:04374; Vega:OTTHUMG00000016867 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.826G>A; p.E276K; 13:46058352-46058352 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.167C>T; p.P56L; 13:46084327-46084327 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.505G>A; p.A169T; 13:46073959-46073959 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1240A>C; p.K414Q; 13:46053646-46053646 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1096C>G; p.P366A; 13:46053790-46053790 |
breast | carcinoma | Substitution - Missense |
c.5A>C; p.K2T; 13:46105005-46105005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>T; p.G88*; 13:46084232-46084232 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.553T>A; p.W185R; 13:46073911-46073911 |
pancreas | carcinoma | Substitution - Missense |
c.1231G>A; p.A411T; 13:46053655-46053655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745C>A; p.H249N; 13:46064699-46064699 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.231C>T; p.V77V; 13:46084263-46084263 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.65C>T; p.A22V; 13:46104945-46104945 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.65C>T; p.A22V; 13:46104945-46104945 |
pancreas | carcinoma | Substitution - Missense |
c.213delT; p.F71fs*2; 13:46084281-46084281 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.354G>A; p.S118S; 13:46082471-46082471 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.478G>T; p.V160F; 13:46078808-46078808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.478G>T; p.V160F; 13:46078808-46078808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.478G>T; p.V160F; 13:46078808-46078808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.384+1G>A; p.?; 13:46082440-46082440 |
lung | carcinoma; adenocarcinoma | Unknown |
c.478G>T; p.V160F; 13:46078808-46078808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.478G>T; p.V160F; 13:46078808-46078808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.994G>A; p.E332K; 13:46058184-46058184 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1196G>A; p.R399H; 13:46053690-46053690 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.145T>C; p.Y49H; 13:46087750-46087750 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.75-1G>A; p.?; 13:46087821-46087821 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.261C>T; p.S87S; 13:46084233-46084233 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.707G>A; p.R236Q; 13:46064737-46064737 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.707G>A; p.R236Q; 13:46064737-46064737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.707G>A; p.R236Q; 13:46064737-46064737 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.213_214insT; p.V72fs*5; 13:46084280-46084281 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.663A>G; p.P221P; 13:46067346-46067346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.168G>A; p.P56P; 13:46084326-46084326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.760G>T; p.D254Y; 13:46064684-46064684 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1067G>A; p.G356D; 13:46055782-46055782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067G>A; p.G356D; 13:46055782-46055782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226T>C; p.F409S; 13:46053660-46053660 |
skin | malignant_melanoma | Substitution - Missense |
c.888G>T; p.L296F; 13:46058290-46058290 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.340C>T; p.R114*; 13:46082485-46082485 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Nonsense |
c.779C>A; p.A260D; 13:46064665-46064665 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.192G>C; p.K64N; 13:46084302-46084302 |
breast | carcinoma | Substitution - Missense |
c.1176C>T; p.Y392Y; 13:46053710-46053710 |
prostate | carcinoma | Substitution - coding silent |
c.753C>A; p.I251I; 13:46064691-46064691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.159C>G; p.L53L; 13:46084335-46084335 |
liver | carcinoma | Substitution - coding silent |
c.159C>G; p.L53L; 13:46084335-46084335 |
liver | carcinoma | Substitution - coding silent |
c.33C>A; p.P11P; 13:46104977-46104977 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198delA; p.K66fs*7; 13:46084296-46084296 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.150+2T>C; p.?; 13:46087743-46087743 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1015G>T; p.E339*; 13:46055834-46055834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.548G>C; p.R183T; 13:46073916-46073916 |
NS | NS | Substitution - Missense |
c.971G>A; p.R324Q; 13:46058207-46058207 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.797-7G>A; p.?; 13:46058388-46058388 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.7C>T; p.L3F; 13:46105003-46105003 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.701delA; p.K234fs*22; 13:46067308-46067308 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.340delC; p.R114fs*13; 13:46082485-46082485 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.947T>C; p.I316T; 13:46058231-46058231 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.947T>C; p.I316T; 13:46058231-46058231 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.412G>A; p.E138K; 13:46078874-46078874 |
skin | malignant_melanoma | Substitution - Missense |
c.150G>A; p.E50E; 13:46087745-46087745 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1103G>T; p.G368V; 13:46053783-46053783 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.678T>C; p.D226D; 13:46067331-46067331 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.706C>T; p.R236*; 13:46064738-46064738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.608G>A; p.G203E; 13:46067401-46067401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.755G>A; p.G252E; 13:46064689-46064689 |
skin | malignant_melanoma | Substitution - Missense |
c.586G>T; p.G196C; 13:46073878-46073878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.755G>A; p.G252E; 13:46064689-46064689 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434C>T; p.T145I; 13:46078852-46078852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.382G>A; p.E128K; 13:46082443-46082443 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.442C>A; p.H148N; 13:46078844-46078844 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>C; p.G358A; 13:46055776-46055776 |
pancreas | carcinoma | Substitution - Missense |
c.698A>G; p.K233R; 13:46067311-46067311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1215T>C; p.C405C; 13:46053671-46053671 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.845A>G; p.Y282C; 13:46058333-46058333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.232G>A; p.D78N; 13:46084262-46084262 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.826G>T; p.E276*; 13:46058352-46058352 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.210T>G; p.F70L; 13:46084284-46084284 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1125T>G; p.D375E; 13:46053761-46053761 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.263G>A; p.G88E; 13:46084231-46084231 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.762C>T; p.D254D; 13:46064682-46064682 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.616G>A; p.G206R; 13:46067393-46067393 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.854C>T; p.S285L; 13:46058324-46058324 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.508G>T; p.A170S; 13:46073956-46073956 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.16C>T; p.L6F; 13:46104994-46104994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.491C>T; p.S164F; 13:46073973-46073973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210A>C; p.T404P; 13:46053676-46053676 |
breast | carcinoma | Substitution - Missense |
c.713G>A; p.W238*; 13:46064731-46064731 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.859C>A; p.P287T; 13:46058319-46058319 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1241A>G; p.K414R; 13:46053645-46053645 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1060A>G; p.T354A; 13:46055789-46055789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.975T>A; p.S325R; 13:46058203-46058203 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.603C>A; p.F201L; 13:46067406-46067406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244T>C; p.I415T; 13:46053642-46053642 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.790T>C; p.W264R; 13:46064654-46064654 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.275G>A; p.S92N; 13:46084219-46084219 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142C>T; p.S381L; 13:46053744-46053744 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.966T>A; p.Y322*; 13:46058212-46058212 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.966T>A; p.Y322*; 13:46058212-46058212 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.712T>C; p.W238R; 13:46064732-46064732 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.178G>A; p.D60N; 13:46084316-46084316 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.364C>T; p.Q122*; 13:46082461-46082461 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1070A>G; p.H357R; 13:46055779-46055779 |
liver | carcinoma | Substitution - Missense |
c.150+8C>T; p.?; 13:46087737-46087737 |
pancreas | carcinoma | Unknown |
c.833A>G; p.Y278C; 13:46058345-46058345 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1206A>C; p.K402N; 13:46053680-46053680 |
breast | carcinoma | Substitution - Missense |
c.714G>A; p.W238*; 13:46064730-46064730 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.341G>T; p.R114L; 13:46082484-46082484 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400G>T; p.E134*; 13:46078886-46078886 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.400G>T; p.E134*; 13:46078886-46078886 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.400G>T; p.E134*; 13:46078886-46078886 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.64G>A; p.A22T; 13:46104946-46104946 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797-1G>A; p.?; 13:46058382-46058382 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.24C>T; p.V8V; 13:46104986-46104986 |
liver | carcinoma | Substitution - coding silent |
c.24C>T; p.V8V; 13:46104986-46104986 |
liver | carcinoma | Substitution - coding silent |
c.24C>T; p.V8V; 13:46104986-46104986 |
liver | carcinoma | Substitution - coding silent |
c.664G>A; p.V222M; 13:46067345-46067345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.753C>T; p.I251I; 13:46064691-46064691 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.753C>T; p.I251I; 13:46064691-46064691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.307C>T; p.Q103*; 13:46082518-46082518 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1053C>A; p.T351T; 13:46055796-46055796 |
breast | carcinoma | Substitution - coding silent |
c.292G>A; p.V98M; 13:46082533-46082533 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.97C>T; p.P33S; 13:46087798-46087798 |
skin | malignant_melanoma | Substitution - Missense |
c.940C>G; p.Q314E; 13:46058238-46058238 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |