| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7048 |
Name | TGFBR2 |
Synonymous | AAT3|FAA3|LDS1B|LDS2B|MFS2|RIIC|TAAD2|TGFR-2|TGFbeta-RII;transforming growth factor, beta receptor II (70/80kDa);TGFBR2;transforming growth factor, beta receptor II (70/80kDa) |
Definition | TGF-beta receptor type II|TGF-beta receptor type IIB|TGF-beta receptor type-2|TGF-beta type II receptor|tbetaR-II|transforming growth factor beta receptor type IIC|transforming growth factor, beta receptor II (70/80kDa) isoform 1|transforming growth facto |
Position | 3p22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TGFBR2 | ||
PCGP somatic mutation [Top] | ||
There is no record for TGFBR2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.374_375delAA; p.K128fs*3; |
large_intestine | carcinoma; adenocarcinoma |
c.374_375delAA; p.K128fs*3; |
large_intestine | carcinoma; adenocarcinoma |
c.1336G>A; p.D446N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1552A>T; p.T518S; 3:30707943-30707943 |
lung | carcinoma; adenocarcinoma |
c.189C>T; p.N63N; |
NS | malignant_melanoma |
c.189C>T; p.N63N; |
NS | malignant_melanoma |
c.428G>A; p.C143Y; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.374delA; p.K128fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1133G>T; p.R378M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1336G>A; p.D446N; |
pancreas | carcinoma |
c.1058C>T; p.S353F; |
pancreas | carcinoma |
c.1373C>A; p.T458K; |
stomach | carcinoma |
c.1583G>A; p.R528H; 3:30707974-30707974 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1211T>G; p.L404R; |
oesophagus | carcinoma; adenocarcinoma |
c.374_375insA; p.P129fs*3; |
oesophagus | carcinoma; adenocarcinoma |
c.455-4T>A; p.?; |
stomach | carcinoma; adenocarcinoma |
c.1355T>C; p.L452P; |
large_intestine; colon | carcinoma |
c.1555G>A; p.E519K; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1181G>T; p.C394F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.217A>G; p.I73V; 3:30661365-30661365 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1364G>C; p.W455S; |
pancreas | carcinoma; ductal_carcinoma |
c.1483C>T; p.R495*; 3:30704966-30704966 |
pancreas | carcinoma; ductal_carcinoma |
c.1337A>T; p.D446V; |
pancreas | carcinoma; ductal_carcinoma |
c.1361T>C; p.L454P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.373_384ins?; p.?; |
skin; leg | malignant_melanoma; superficial_spreading |
c.789G>A; p.L263L; |
lung | carcinoma; adenocarcinoma |
c.1659_1660GG>TT; p.S553>?; |
lung | carcinoma; adenocarcinoma |
c.1231G>T; p.D411Y; |
lung | carcinoma; adenocarcinoma |
c.1563G>A; p.W521*; 3:30707954-30707954 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.982C>T; p.H328Y; 3:30688661-30688661 |
lung | carcinoma; non_small_cell_carcinoma |
c.1151A>G; p.N384S; |
ovary | carcinoma |
c.373_374insA; p.P129fs*3; |
pancreas | carcinoma; ductal_carcinoma |
c.852T>A; p.Y284*; |
pancreas | carcinoma; ductal_carcinoma |
c.1469A>G; p.N490S; 3:30704952-30704952 |
stomach | carcinoma; adenocarcinoma |
c.181T>C; p.C61R; 3:30661329-30661329 |
stomach | carcinoma; adenocarcinoma |
c.1483C>T; p.R495*; 3:30704966-30704966 |
large_intestine | carcinoma; adenocarcinoma |
c.382_383delAA; p.K128fs*3; 3:30666884-30666885 |
large_intestine | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; 3:30704972-30704972 |
stomach | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; 3:30704972-30704972 |
large_intestine | carcinoma; adenocarcinoma |
c.1178G>T; p.C393F; |
pancreas | NS |
c.1450_1460del11; p.V484fs*28; |
pancreas | NS |
c.1609C>T; p.R537C; |
pancreas | NS |
c.1481delA; p.D494fs*24; |
pancreas | NS |
c.1570G>T; p.D524Y; |
pancreas | NS |
c.1562G>A; p.W521*; |
pancreas | NS |
c.1247_1248insG; p.S416fs*25; |
pancreas | NS |
c.1178G>T; p.C393F; |
pancreas | carcinoma; ductal_carcinoma |
c.1066_1067insC; p.R356fs*9; |
pancreas | NS |
c.1489C>T; p.R497*; 3:30704972-30704972 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.283A>T; p.I95L; 3:30666785-30666785 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.283A>T; p.I95L; 3:30666785-30666785 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1402A>C; p.K468Q; 3:30704885-30704885 |
ovary | carcinoma; serous_carcinoma |
c.786G>C; p.K262N; 3:30688465-30688465 |
ovary | carcinoma; serous_carcinoma |
c.829A>G; p.K277E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1582C>T; p.R528C; |
lung | carcinoma; adenocarcinoma |
c.916C>T; p.Q306*; |
lung | carcinoma; squamous_cell_carcinoma |
c.915C>T; p.L305L; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1436G>A; p.R479Q; 3:30704919-30704919 |
ovary | carcinoma; serous_carcinoma |
c.717A>G; p.T239T; |
lung | carcinoma; squamous_cell_carcinoma |
c.726G>A; p.L242L; |
lung | carcinoma; squamous_cell_carcinoma |
c.884C>G; p.S295*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1614C>T; p.F538F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.771G>C; p.E257D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1017G>A; p.R339R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1322C>T; p.S441F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1583G>A; p.R528H; 3:30707974-30707974 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.183T>C; p.C61C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1282G>A; p.E428K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1593C>A; p.A531A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.949T>C; p.L317L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1484G>A; p.R495Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1583G>A; p.R528H; 3:30707974-30707974 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; 3:30704972-30704972 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.102C>T; p.N34N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.373_374insA; p.P129fs*3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1336G>A; p.D446N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1570G>A; p.D524N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.968T>C; p.L323P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1563G>A; p.W521*; 3:30707954-30707954 |
breast | carcinoma |
c.222C>A; p.T74T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.927G>T; p.T309T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1453G>A; p.E485K; |
breast | carcinoma |
c.786G>A; p.K262K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.377A>C; p.K126T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1554T>A; p.T518T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.229T>C; p.C77R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1434G>A; p.V478V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1067G>A; p.R356Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.307G>A; p.D103N; |
breast | carcinoma |
c.303C>T; p.C101C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1234G>C; p.D412H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.831G>T; p.K277N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.949T>C; p.L317L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.784A>G; p.K262E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.927G>A; p.T309T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1554T>C; p.T518T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1469A>G; p.N490S; 3:30704952-30704952 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1561T>C; p.W521R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1582C>T; p.R528C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.696_698delCAA; p.N234delN; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.219C>T; p.I73I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.315G>A; p.K105K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1484G>C; p.R495P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1043G>A; p.R348H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1336G>A; p.D446N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.285A>G; p.I95M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1554T>A; p.T518T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1404A>G; p.K468K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1582C>T; p.R528C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1468A>G; p.N490D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.984C>T; p.H328H; |
breast | carcinoma |
c.1435C>T; p.R479W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1275G>T; p.M425I; |
urinary_tract; bladder | carcinoma |
c.219C>T; p.I73I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1403A>G; p.K468R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1583G>A; p.R528H; 3:30707974-30707974 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.183T>C; p.C61C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.868G>A; p.E290K; |
urinary_tract; bladder | carcinoma |