Entrez Gene

Basic Information
Gene ID	7054
Name	TH
Synonymous	tyrosine hydroxylase;TH;tyrosine hydroxylase
Definition	dystonia 14\|tyrosine 3-hydroxylase\|tyrosine 3-monooxygenase
Position	11p15.5
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.351C>T; p.F117F; 11:2169704-2169704	skin	malignant_melanoma	Substitution - coding silent
c.568G>T; p.A190S; 11:2168503-2168503	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>T; p.A190S; 11:2168503-2168503	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1302G>A; p.L434L; 11:2165357-2165357	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.12delC; p.D5fs*27; 11:2171775-2171775	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1155G>A; p.A385A; 11:2166044-2166044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.505C>T; p.R169*; 11:2168566-2168566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.555C>A; p.D185E; 11:2168516-2168516	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.72G>A; p.K24K; 11:2171715-2171715	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.11C>T; p.P4L; 11:2171776-2171776	skin	malignant_melanoma	Substitution - Missense
c.318G>A; p.E106E; 11:2169737-2169737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1282G>A; p.G428R; 11:2165679-2165679	skin	malignant_melanoma	Substitution - Missense
c.677C>T; p.S226L; 11:2167926-2167926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>T; p.F463F; 11:2165270-2165270	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1344G>T; p.A448A; 11:2165315-2165315	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>T; p.G428W; 11:2165679-2165679	NS	NS	Substitution - Missense
c.1201T>C; p.Y401H; 11:2165760-2165760	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.567C>T; p.P189P; 11:2168504-2168504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064_1065insC; p.E356fs*1; 11:2166638-2166639	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1316A>C; p.E439A; 11:2165343-2165343	liver	carcinoma	Substitution - Missense
c.1316A>C; p.E439A; 11:2165343-2165343	liver	carcinoma	Substitution - Missense
c.297G>A; p.L99L; 11:2169758-2169758	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.334G>A; p.V112M; 11:2169721-2169721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.V112M; 11:2169721-2169721	large_intestine	adenoma	Substitution - Missense
c.191G>A; p.R64Q; 11:2169864-2169864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.742G>A; p.D248N; 11:2167481-2167481	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1037G>A; p.R346H; 11:2166666-2166666	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1454C>T; p.P485L; 11:2164366-2164366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.187C>T; p.P63S; 11:2169868-2169868	skin	malignant_melanoma	Substitution - Missense
c.504C>T; p.R168R; 11:2168567-2168567	skin	malignant_melanoma	Substitution - coding silent
c.1410C>T; p.D470D; 11:2165249-2165249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.560G>A; p.R187H; 11:2168511-2168511	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1476G>A; p.P492P; 11:2164344-2164344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389C>A; p.F463L; 11:2165270-2165270	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>A; p.K271K; 11:2167008-2167008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.813G>A; p.K271K; 11:2167008-2167008	thyroid	other; neoplasm	Substitution - coding silent
c.458G>A; p.R153Q; 11:2168613-2168613	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1196C>T; p.T399M; 11:2166003-2166003	ovary	other; neoplasm	Substitution - Missense
c.841G>T; p.E281*; 11:2166980-2166980	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1221C>T; p.F407F; 11:2165740-2165740	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1460C>T; p.S487F; 11:2164360-2164360	skin	malignant_melanoma	Substitution - Missense
c.1526C>T; p.S509F; 11:2164294-2164294	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1491C>T; p.I497I; 11:2164329-2164329	skin	malignant_melanoma	Substitution - coding silent
c.1445T>G; p.I482S; 11:2164375-2164375	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.327G>A; p.G109G; 11:2169728-2169728	skin	malignant_melanoma	Substitution - coding silent
c.1518G>T; p.V506V; 11:2164302-2164302	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1522C>A; p.R508S; 11:2164298-2164298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>T; p.H522Y; 11:2164256-2164256	skin	malignant_melanoma	Substitution - Missense
c.1277C>T; p.S426F; 11:2165684-2165684	skin	malignant_melanoma	Substitution - Missense
c.507A>G; p.R169R; 11:2168564-2168564	liver	carcinoma	Substitution - coding silent
c.507A>G; p.R169R; 11:2168564-2168564	liver	carcinoma	Substitution - coding silent
c.860C>A; p.A287D; 11:2166961-2166961	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.467delG; p.G156fs*81; 11:2168604-2168604	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.910G>T; p.E304*; 11:2166911-2166911	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.453G>A; p.R151R; 11:2168618-2168618	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.823G>A; p.A275T; 11:2166998-2166998	ovary	other; neoplasm	Substitution - Missense
c.43C>A; p.R15S; 11:2171744-2171744	skin	malignant_melanoma	Substitution - Missense
c.12C>A; p.P4P; 11:2171775-2171775	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1263C>G; p.A421A; 11:2165698-2165698	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.697C>T; p.R233C; 11:2167906-2167906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.378G>A; p.A126A; 11:2169677-2169677	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.187C>A; p.P63T; 11:2169868-2169868	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.58G>C; p.E20Q; 11:2171729-2171729	breast	carcinoma	Substitution - Missense
c.571G>A; p.G191R; 11:2168500-2168500	skin	malignant_melanoma	Substitution - Missense
c.1036C>A; p.R346S; 11:2166667-2166667	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.359G>T; p.R120M; 11:2169696-2169696	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.134C>T; p.P45L; 11:2170739-2170739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.234G>T; p.K78N; 11:2169821-2169821	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.998G>T; p.S333I; 11:2166705-2166705	thyroid	other; neoplasm	Substitution - Missense
c.63G>A; p.L21L; 11:2171724-2171724	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.620G>A; p.C207Y; 11:2168140-2168140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.912G>T; p.E304D; 11:2166909-2166909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.592C>T; p.P198S; 11:2168168-2168168	skin	malignant_melanoma	Substitution - Missense
c.1470C>T; p.F490F; 11:2164350-2164350	kidney	other; neoplasm	Substitution - coding silent
c.110C>T; p.P37L; 11:2170763-2170763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.261G>A; p.A87A; 11:2169794-2169794	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.668C>A; p.P223Q; 11:2168092-2168092	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1527C>T; p.S509S; 11:2164293-2164293	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1177G>A; p.E393K; 11:2166022-2166022	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1451G>A; p.R484H; 11:2164369-2164369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>A; p.R484H; 11:2164369-2164369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>C; p.G156A; 11:2168604-2168604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.526C>T; p.L176F; 11:2168545-2168545	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1462G>A; p.V488M; 11:2164358-2164358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450C>T; p.R484C; 11:2164370-2164370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.787T>C; p.W263R; 11:2167436-2167436	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>A; p.D498N; 11:2164328-2164328	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.A83T; 11:2169808-2169808	skin	malignant_melanoma	Substitution - Missense
c.1411G>A; p.A471T; 11:2165248-2165248	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.15C>T; p.D5D; 11:2171772-2171772	pancreas	carcinoma	Substitution - coding silent
c.15C>T; p.D5D; 11:2171772-2171772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.15C>T; p.D5D; 11:2171772-2171772	pancreas	carcinoma	Substitution - coding silent
c.631G>A; p.V211I; 11:2168129-2168129	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.316G>A; p.E106K; 11:2169739-2169739	central_nervous_system; brain	glioma	Substitution - Missense
c.133C>T; p.P45S; 11:2170740-2170740	skin; neck	malignant_melanoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 11:2164378-2164378	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1272G>T; p.L424L; 11:2165689-2165689	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1515C>A; p.A505A; 11:2164305-2164305	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]