| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7297 |
Name | TYK2 |
Synonymous | JTK1;tyrosine kinase 2;TYK2;tyrosine kinase 2 |
Definition | non-receptor tyrosine-protein kinase TYK2 |
Position | 19p13.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TYK2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
TYK2_R633H; chr19; 10472507 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1181G>A; p.S394N; |
lung | carcinoma; adenocarcinoma |
c.2383A>G; p.M795V; |
ovary | other; neoplasm |
c.3325C>T; p.L1109F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.3206C>G; p.A1069G; 19:10324222-10324222 |
lung | carcinoma; adenocarcinoma |
c.3545C>T; p.S1182L; 19:10322529-10322529 |
lung | carcinoma; adenocarcinoma |
c.1897C>T; p.R633C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.658C>T; p.R220C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.670C>T; p.R224W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1693C>T; p.R565W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2974C>T; p.R992W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2603G>T; p.R868L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.692G>A; p.R231Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.3560G>T; p.C1187F; |
lung | carcinoma; undifferentiated_carcinoma |
c.1252T>C; p.S418P; |
pancreas | carcinoma; acinar_carcinoma |
c.727C>T; p.R243W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3080G>A; p.R1027H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.104C>T; p.A35V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3080G>A; p.R1027H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2810G>C; p.G937A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1480C>T; p.P494S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.163G>A; p.E55K; |
eye; uveal_tract | malignant_melanoma; spindle |
c.1702C>T; p.R568W; |
oesophagus | carcinoma; adenocarcinoma |
c.3117C>T; p.I1039I; |
oesophagus | carcinoma; adenocarcinoma |
c.1155C>T; p.H385H; |
oesophagus | carcinoma; adenocarcinoma |
c.3036C>A; p.A1012A; |
oesophagus | carcinoma; adenocarcinoma |
c.727C>T; p.R243W; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3046G>A; p.A1016T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2855G>A; p.R952H; |
oesophagus | carcinoma; adenocarcinoma |
c.1580G>A; p.R527Q; |
lung | carcinoma; small_cell_carcinoma |
c.2183A>G; p.K728R; |
lung | carcinoma; adenocarcinoma |
c.943G>A; p.E315K; |
lung | carcinoma; adenocarcinoma |
c.3429+1G>T; p.?; 19:10322727-10322727 |
breast | carcinoma; ductal_carcinoma |
c.1779C>T; p.S593S; |
liver | carcinoma |
c.1778C>G; p.S593C; |
liver | carcinoma |
c.1264G>A; p.G422S; |
large_intestine; colon | carcinoma |
c.575G>A; p.C192Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2488C>T; p.Q830*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2439C>T; p.A813A; |
skin; arm | malignant_melanoma |
c.2102G>C; p.R701T; |
lung | carcinoma; adenocarcinoma |
c.1156G>T; p.V386L; |
lung | carcinoma; adenocarcinoma |
c.1278G>T; p.L426L; |
lung | carcinoma; adenocarcinoma |
c.3247G>C; p.D1083H; |
lung | carcinoma; adenocarcinoma |
c.2245G>C; p.E749Q; |
lung | carcinoma; adenocarcinoma |
c.769G>T; p.V257F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2895C>A; p.C965*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1168G>T; p.E390*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1631G>T; p.C544F; |
autonomic_ganglia | neuroblastoma |
c.829G>A; p.V277M; |
prostate | carcinoma |
c.706A>G; p.N236D; |
prostate | carcinoma |
c.2289C>T; p.G763G; 19:10329701-10329701 |
large_intestine | carcinoma; adenocarcinoma |
c.2195A>G; p.H732R; 19:10329795-10329795 |
large_intestine | carcinoma; adenocarcinoma |
c.1898G>A; p.R633H; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1124C>T; p.A375V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2051T>G; p.I684S; |
prostate | adenoma |
c.2863T>C; p.Y955H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.893T>A; p.V298E; |
ovary | carcinoma; serous_carcinoma |
c.1398C>T; p.P466P; |
ovary | carcinoma; serous_carcinoma |
c.582C>A; p.L194L; |
lung | carcinoma; squamous_cell_carcinoma |
c.959G>T; p.G320V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1207C>A; p.L403M; |
lung | carcinoma; squamous_cell_carcinoma |
c.943G>A; p.E315K; |
lung | carcinoma; squamous_cell_carcinoma |
c.311G>T; p.R104L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2919G>A; p.S973S; |
ovary | carcinoma; serous_carcinoma |
c.2618-1G>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2108G>T; p.R703L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2404G>T; p.A802S; |
lung | carcinoma; squamous_cell_carcinoma |
c.972C>G; p.I324M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1908G>C; p.E636D; |
ovary | carcinoma; serous_carcinoma |
c.3159_3160GT>CC; p.E1053_Y1054>DH; |
ovary | carcinoma; serous_carcinoma |
c.317+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1009G>A; p.E337K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1106C>T; p.P369L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3334A>G; p.I1112V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.582C>T; p.L194L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2195A>G; p.H732R; 19:10329795-10329795 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1239G>A; p.A413A; |
breast | carcinoma |
c.1327C>G; p.L443V; |
breast | carcinoma |
c.2051T>G; p.I684S; |
breast | carcinoma |
c.2051T>G; p.I684S; |
breast | carcinoma |
c.115G>A; p.G39S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1693C>T; p.R565W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1025G>A; p.S342N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2895C>T; p.C965C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.295C>A; p.L99M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.756G>A; p.Q252Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3406C>T; p.R1136W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1579C>T; p.R527W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3334A>G; p.I1112V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1248C>T; p.F416F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1677C>A; p.S559S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2184G>T; p.K728N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3122A>C; p.D1041A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1038C>T; p.N346N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2295C>T; p.G765G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2785G>A; p.V929M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2230C>T; p.R744W; |
breast | carcinoma |
c.1309G>A; p.E437K; |
breast | carcinoma |
c.1683C>G; p.L561L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.667A>G; p.I223V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.481G>T; p.V161L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.828C>T; p.P276P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.403G>C; p.D135H; |
urinary_tract; bladder | carcinoma |
c.3110T>G; p.V1037G; |
prostate | carcinoma; adenocarcinoma |
c.2385G>A; p.M795I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1590G>T; p.G530G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1101C>T; p.D367D; |
urinary_tract; bladder | carcinoma |
c.864G>A; p.G288G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2823C>G; p.R941R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1278G>T; p.L426L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2719C>A; p.H907N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3287C>T; p.T1096M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.138C>T; p.F46F; |
urinary_tract; bladder | carcinoma |
c.1035_1036insG; p.N346fs*34; |
breast | carcinoma |
c.3315_3316insC; p.T1106fs*5; |
breast | carcinoma |
c.3505C>T; p.L1169L; |
urinary_tract; bladder | carcinoma |
c.2996A>G; p.Q999R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2434G>T; p.E812*; |
prostate | carcinoma; adenocarcinoma |
c.513G>A; p.S171S; |
urinary_tract; bladder | carcinoma |
c.44T>C; p.V15A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.821G>A; p.R274H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.196A>T; p.I66F; |
skin | malignant_melanoma |
c.2161G>A; p.A721T; |
skin | malignant_melanoma |
c.2176-1G>A; p.?; |
skin | malignant_melanoma |
c.2176G>A; p.E726K; |
skin | malignant_melanoma |
c.2902G>A; p.D968N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2716-6G>A; p.?; |
stomach | adenocarcinoma |