| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7249 |
Name | TSC2 |
Synonymous | LAM|TSC4;tuberous sclerosis 2;TSC2;tuberous sclerosis 2 |
Definition | tuberin|tuberous sclerosis 2 protein |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TSC2 | ||
PCGP somatic mutation [Top] | ||
There is no record for TSC2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.5333C>G; p.A1778G; |
soft_tissue; striated_muscle | rhabdoid_tumour |
c.1923C>A; p.S641R; 16:2061595-2061595 |
lung | carcinoma; adenocarcinoma |
c.1414G>A; p.V472M; 16:2053026-2053026 |
lung | carcinoma; adenocarcinoma |
c.3867G>T; p.R1289S; 16:2072490-2072490 |
lung | carcinoma; adenocarcinoma |
c.5159A>G; p.N1720S; |
liver | carcinoma; hepatocellular_carcinoma |
c.5238_5255del18; p.H1746_R1751del; |
kidney | other; angiomyolipoma |
c.1210C>T; p.Q404*; |
kidney | other; angiomyolipoma |
c.459_459delC; p.T154fs*28; |
kidney | other; angiomyolipoma |
c.4750_4750delC; p.L1584fs*1; |
kidney | other; angiomyolipoma |
c.5238_5255del18; p.H1746_R1751del; |
kidney | other; angiomyolipoma |
c.682_715del34; p.Y228fs*21; |
kidney | other; angiomyolipoma |
c.4938_4939delGT; p.S1647fs*5; |
kidney | other; angiomyolipoma |
c.3412C>T; p.R1138*; |
central_nervous_system; cerebral_cortex | other; tuberous_sclerosis_tuber |
c.1564C>T; p.H522Y; |
central_nervous_system; cerebral_cortex | other; tuberous_sclerosis_tuber |
c.3294_3294delC; p.V1100fs*3; |
central_nervous_system; cerebral_cortex | other; tuberous_sclerosis_tuber |
c.5238_5255del18; p.H1746_R1751del; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5238_5255del18; p.H1746_R1751del; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.4681_4682delAT; p.I1561fs*4; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5238_5255del18; p.H1746_R1751del; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5238_5255del18; p.H1746_R1751del; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5228G>A; p.R1743Q; |
central_nervous_system; caudate_nucleus | glioma; astrocytoma_Grade_I |
c.4358_4372>A; p.P1453fs*66; |
kidney | other; angiomyolipoma |
c.5178_5179insTGCA; p.H1727fs*3; |
lung | other; lymphangioleiomyomatosis |
c.4249_4249delC; p.R1417fs*59; |
lung | other; lymphangioleiomyomatosis |
c.4090_4091insT; p.S1364fs*50; |
lung | other; lymphangioleiomyomatosis |
c.4249_4249delC; p.R1417fs*59; |
lung | other; lymphangioleiomyomatosis |
c.4090_4091insT; p.S1364fs*50; |
lung | other; lymphangioleiomyomatosis |
c.4249_4249delC; p.R1417fs*59; |
lung | other; lymphangioleiomyomatosis |
c.4090_4091insT; p.S1364fs*50; |
lung | other; lymphangioleiomyomatosis |
c.4249_4249delC; p.R1417fs*59; |
lung | other; lymphangioleiomyomatosis |
c.4090_4091insT; p.S1364fs*50; |
lung | other; lymphangioleiomyomatosis |
c.4249_4249delC; p.R1417fs*59; |
lung | other; lymphangioleiomyomatosis |
c.4090_4091insT; p.S1364fs*50; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.2069_2069delT; p.F690fs*8; |
lung | other; lymphangioleiomyomatosis |
c.1096G>T; p.E366*; |
kidney | other; angiomyolipoma |
c.1096G>T; p.E366*; |
lung | other; lymphangioleiomyomatosis |
c.2061_2073del13; p.L688fs*6; |
kidney | other; angiomyolipoma |
c.2061_2073del13; p.L688fs*6; |
lung | other; lymphangioleiomyomatosis |
c.529_532delCTTC; p.L177fs*4; |
kidney | other; angiomyolipoma |
c.529_532delCTTC; p.L177fs*4; |
lung | other; lymphangioleiomyomatosis |
c.1832G>A; p.R611Q; |
kidney | other; angiomyolipoma |
c.1832G>A; p.R611Q; |
kidney | other; angiomyolipoma |
c.1832G>A; p.R611Q; |
lung | other; lymphangioleiomyomatosis |
c.5024C>T; p.P1675L; |
lung | other; lymphangioleiomyomatosis |
c.781C>T; p.R261W; |
lung | other; lymphangioleiomyomatosis |
c.3610+1G>A; p.?; |
lung | other; lymphangioleiomyomatosis |
c.789_806del18; p.L264_G269del; |
lung | other; lymphangioleiomyomatosis |
c.5127_5127delC; p.F1710fs*99; |
lung | other; lymphangioleiomyomatosis |
c.1947-4_2030del88; p.?; |
lung | other; lymphangioleiomyomatosis |
c.1837C>T; p.Q613*; |
lung | other; lymphangioleiomyomatosis |
c.3167_3167delG; p.T1057fs*13; |
lung | other; lymphangioleiomyomatosis |
c.1513C>T; p.R505*; |
lung | other; lymphangioleiomyomatosis |
c.?; p.R57H; |
ovary | carcinoma; mucinous_carcinoma |
c.139G>A; p.E47K; |
NS | malignant_melanoma |
c.139G>A; p.E47K; |
NS | malignant_melanoma |
c.722_723insTACC; p.L243fs*96; |
liver | carcinoma; hepatocellular_carcinoma |
c.888_889insT; p.V299fs*39; |
liver | carcinoma; hepatocellular_carcinoma |
c.2035G>A; p.V679M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4916G>A; p.R1639H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3641A>T; p.N1214I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2701C>T; p.R901C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1381G>A; p.V461M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.410A>G; p.H137R; |
parathyroid | adenoma |
c.1025T>C; p.I342T; |
pancreas | carcinoma; acinar_carcinoma |
c.4298C>A; p.S1433*; |
liver | carcinoma |
c.667G>A; p.D223N; 16:2046664-2046664 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1922G>A; p.S641N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2167A>G; p.I723V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2366T>C; p.V789A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3995C>T; p.A1332V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4603G>A; p.D1535N; |
oesophagus | carcinoma; adenocarcinoma |
c.2807G>A; p.R936Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1241G>A; p.C414Y; |
liver | carcinoma |
c.399C>T; p.N133N; |
liver | carcinoma |
c.1642A>G; p.R548G; |
liver | carcinoma |
c.4439_4440insA; p.S1482fs*42; |
liver | carcinoma; hepatocellular_carcinoma |
c.481+5G>A; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.226-8G>A; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.3093T>A; p.A1031A; |
liver | carcinoma; hepatocellular_carcinoma |
c.400G>A; p.E134K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1460C>G; p.S487*; |
liver | carcinoma |
c.1503C>A; p.D501E; |
liver | carcinoma |
c.785_795del11; p.L263fs*71; |
liver | carcinoma |
c.5141A>G; p.Q1714R; |
liver | carcinoma |
c.2409G>T; p.Q803H; |
liver | carcinoma |
c.838A>G; p.M280V; |
liver | carcinoma |
c.3662C>A; p.S1221*; |
liver | carcinoma |
c.5167_5168insTA; p.S1723fs*>86; |
liver | carcinoma |
c.1600-2A>G; p.?; |
liver | carcinoma |
c.4541C>G; p.S1514*; |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.5345C>T; p.A1782V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4909_4911delAAG; p.K1638delK; |
liver | carcinoma |
c.481+5G>A; p.?; |
liver | carcinoma |
c.3164G>A; p.G1055D; |
ovary | carcinoma |
c.5233C>T; p.R1745C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1108C>T; p.Q370*; |
lung | other; lymphangioleiomyomatosis |
c.1108C>T; p.Q370*; |
lung | other; lymphangioleiomyomatosis |
c.3563C>T; p.P1188L; |
skin; trunk | malignant_melanoma; nodular |
c.3564C>T; p.P1188P; |
skin; trunk | malignant_melanoma; nodular |
c.734G>C; p.R245P; |
lung | carcinoma; adenocarcinoma |
c.2692A>T; p.I898F; |
lung | carcinoma; adenocarcinoma |
c.3219G>T; p.V1073V; |
lung | carcinoma; adenocarcinoma |
c.4498G>A; p.V1500M; |
lung | carcinoma; adenocarcinoma |
c.2008C>T; p.P670S; |
skin; extremity | malignant_melanoma |
c.5215A>C; p.K1739Q; |
skin; extremity | malignant_melanoma |
c.50T>A; p.I17N; |
NS | malignant_melanoma |
c.5371G>A; p.G1791S; |
skin; extremity | malignant_melanoma |
c.4767G>T; p.P1589P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4082G>A; p.R1361Q; |
autonomic_ganglia | neuroblastoma |
c.2513G>A; p.S838N; |
NS | NS |
c.629C>T; p.A210V; |
breast | carcinoma |
c.4677C>A; p.L1559L; |
prostate | carcinoma |
c.4067G>T; p.G1356V; |
prostate | carcinoma |
c.1491C>T; p.P497P; |
pancreas | NS |
c.3593T>C; p.L1198P; |
lung | carcinoma; small_cell_carcinoma |
c.3995C>T; p.A1332V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.690C>A; p.C230*; |
prostate | adenoma |
c.4239G>C; p.E1413D; |
autonomic_ganglia | neuroblastoma |
c.2521G>A; p.V841I; 16:2064367-2064367 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3421G>A; p.A1141T; 16:2070190-2070190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.133C>A; p.L45M; 16:2038750-2038750 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.778A>G; p.M260V; |
ovary | carcinoma; serous_carcinoma |
c.1062G>T; p.Q354H; |
lung | carcinoma; adenocarcinoma |
c.4822T>G; p.Y1608D; 16:2076354-2076354 |
ovary | carcinoma; serous_carcinoma |
c.3285-2A>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.3087G>T; p.M1029I; 16:2069154-2069154 |
ovary | carcinoma; serous_carcinoma |
c.3542C>T; p.T1181M; |
lung | carcinoma; adenocarcinoma |
c.2173A>T; p.T725S; |
lung | carcinoma; adenocarcinoma |
c.3337G>T; p.E1113*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2702G>A; p.R901H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1186G>T; p.D396Y; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.474A>G; p.E158E; |
lung | carcinoma; adenocarcinoma |
c.1716+1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5164G>C; p.A1722P; |
lung | carcinoma; squamous_cell_carcinoma |
c.600-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.3132-1G>C; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2106C>A; p.D702E; |
breast | carcinoma |
c.955G>T; p.V319L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.767G>A; p.C256Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.487_488delTT; p.F163fs*25; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4313G>A; p.R1438Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.522G>A; p.S174S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.716_718delTCA; p.I240delI; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2180C>A; p.P727H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.721G>A; p.V241I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2221-1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.468G>A; p.L156L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3021C>T; p.S1007S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5155G>A; p.A1719T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.170G>A; p.R57H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2979G>A; p.T993T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1136A>G; p.E379G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.344G>A; p.R115H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1716G>T; p.Q572H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3662C>T; p.S1221L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4497C>T; p.F1499F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4812C>A; p.G1604G; |
breast | carcinoma |
c.3069G>A; p.T1023T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5107G>A; p.V1703M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.134T>A; p.L45Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1414G>A; p.V472M; 16:2053026-2053026 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2522T>C; p.V841A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3867G>A; p.R1289R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3646C>A; p.L1216I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.932C>T; p.S311F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4398G>A; p.S1466S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.866C>T; p.A289V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4346C>G; p.S1449C; |
breast | carcinoma |
c.741C>T; p.I247I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1156G>A; p.D386N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1819G>A; p.A607T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1099C>T; p.R367W; |
urinary_tract; bladder | carcinoma |
c.3646C>A; p.L1216I; |
urinary_tract; bladder | carcinoma |
c.1610G>A; p.R537H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.344G>A; p.R115H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1415T>C; p.V472A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4296C>G; p.A1432A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2207C>T; p.A736V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1864C>T; p.R622W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5130C>T; p.F1710F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3984G>A; p.R1328R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.654C>A; p.S218S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1754G>A; p.R585H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4292C>T; p.S1431L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1415T>C; p.V472A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4822T>A; p.Y1608N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.400G>A; p.E134K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1273A>T; p.N425Y; |
breast | carcinoma |
c.4180C>T; p.L1394L; |
breast | carcinoma |
c.1966G>T; p.E656*; |
urinary_tract; bladder | carcinoma |
c.4824C>T; p.Y1608Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1882C>T; p.R628C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3421G>A; p.A1141T; 16:2070190-2070190 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1101G>A; p.R367R; |
urinary_tract; bladder | carcinoma |
c.2701C>T; p.R901C; |
prostate | carcinoma; adenocarcinoma |
c.2742+1G>A; p.?; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.3404A>G; p.H1135R; |
skin | malignant_melanoma |
c.4885G>A; p.D1629N; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.5131G>A; p.V1711M; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.2249_2250insC; p.R751fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |