| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7054 |
Name | TH |
Synonymous | DYT14|DYT5b|TYH;tyrosine hydroxylase;TH;tyrosine hydroxylase |
Definition | dystonia 14|tyrosine 3-hydroxylase|tyrosine 3-monooxygenase |
Position | 11p15.5 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TH | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
TH_R346H; chr11; 2187896 |
SUB; MISSENSE; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1442G>A; p.R481H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.631G>A; p.V211I; |
pancreas | carcinoma; acinar_carcinoma |
c.507A>G; p.R169R; |
liver | carcinoma |
c.910G>T; p.E304*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1316A>C; p.E439A; |
liver | carcinoma |
c.12C>A; p.P4P; |
lung | carcinoma; adenocarcinoma |
c.1389C>A; p.F463L; |
lung | carcinoma; adenocarcinoma |
c.1272G>T; p.L424L; |
lung | carcinoma; adenocarcinoma |
c.568G>T; p.A190S; |
lung | carcinoma; adenocarcinoma |
c.841G>T; p.E281*; |
lung | carcinoma; adenocarcinoma |
c.555C>A; p.D185E; |
lung | carcinoma; adenocarcinoma |
c.1282G>T; p.G428W; |
NS | NS |
c.110C>T; p.P37L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1515C>A; p.A505A; |
lung | carcinoma; squamous_cell_carcinoma |
c.860C>A; p.A287D; |
ovary | carcinoma; serous_carcinoma |
c.359G>T; p.R120M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1518G>T; p.V506V; |
lung | carcinoma; adenocarcinoma |
c.1522C>A; p.R508S; |
lung | carcinoma; adenocarcinoma |
c.668C>A; p.P223Q; |
lung | carcinoma; adenocarcinoma |
c.187C>A; p.P63T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.453G>A; p.R151R; |
lung | carcinoma; squamous_cell_carcinoma |
c.234G>T; p.K78N; |
lung | carcinoma; adenocarcinoma |
c.526C>T; p.L176F; |
lung | carcinoma; squamous_cell_carcinoma |
c.568G>T; p.A190S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.677C>T; p.S226L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1201T>C; p.Y401H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.15C>T; p.D5D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12delC; p.D5fs*27; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1476G>A; p.P492P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.261G>A; p.A87A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1410C>T; p.D470D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.912G>T; p.E304D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1442G>A; p.R481H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.458G>A; p.R153Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.467G>C; p.G156A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1462G>A; p.V488M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.378G>A; p.A126A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.58G>C; p.E20Q; |
breast | carcinoma |
c.1389C>T; p.F463F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1036C>A; p.R346S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.133C>T; p.P45S; |
skin; neck | malignant_melanoma |
c.1526C>T; p.S509F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1411G>A; p.A471T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |