| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 3293 |
Name | HSD17B3 |
Synonymous | hydroxysteroid (17-beta) dehydrogenase 3;HSD17B3;hydroxysteroid (17-beta) dehydrogenase 3 |
Definition | 17-beta-HSD 3|17-beta-HSD3|17-beta-hydroxysteroid dehydrogenase type 3|short chain dehydrogenase/reductase family 12C member 2|short chain dehydrogenase/reductase family 12C, member 2|testicular 17-beta-hydroxysteroid dehydrogenase|testosterone 17-beta-de |
Position | 9q22 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.10G>A; p.V4I; 9:96302095-96302095 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.858C>G; p.F286L; 9:96235535-96235535 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.554C>T; p.S185F; 9:96245397-96245397 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.554C>T; p.S185F; 9:96245397-96245397 |
thyroid | other; neoplasm | Substitution - Missense |
c.554C>T; p.S185F; 9:96245397-96245397 |
skin | malignant_melanoma | Substitution - Missense |
c.571C>T; p.P191S; 9:96245380-96245380 |
skin | malignant_melanoma | Substitution - Missense |
c.15G>A; p.L5L; 9:96302090-96302090 |
skin | malignant_melanoma | Substitution - coding silent |
c.254T>C; p.L85P; 9:96254891-96254891 |
thyroid | carcinoma | Substitution - Missense |
c.814G>A; p.E272K; 9:96240766-96240766 |
skin | malignant_melanoma | Substitution - Missense |
c.517G>A; p.E173K; 9:96246563-96246563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.191A>G; p.Y64C; 9:96298426-96298426 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.456C>A; p.S152R; 9:96249784-96249784 |
breast | carcinoma | Substitution - Missense |
c.357A>T; p.K119N; 9:96252831-96252831 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>T; p.G61W; 9:96298436-96298436 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.91G>A; p.V31I; 9:96302014-96302014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>T; p.G61W; 9:96298436-96298436 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.521C>G; p.S174*; 9:96246559-96246559 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.406C>T; p.P136S; 9:96251465-96251465 |
skin | malignant_melanoma | Substitution - Missense |
c.627C>G; p.S209S; 9:96244374-96244374 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.189G>A; p.A63A; 9:96298428-96298428 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.696G>A; p.S232S; 9:96240884-96240884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.282G>A; p.R94R; 9:96252906-96252906 |
skin | malignant_melanoma | Substitution - coding silent |
c.865G>A; p.G289S; 9:96235528-96235528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.676C>T; p.L226L; 9:96240904-96240904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.793A>G; p.T265A; 9:96240787-96240787 |
prostate | carcinoma | Substitution - Missense |
c.454-1G>A; p.?; 9:96249787-96249787 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.286A>G; p.T96A; 9:96252902-96252902 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.776T>C; p.V259A; 9:96240804-96240804 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.630G>A; p.K210K; 9:96244371-96244371 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.799G>A; p.G267S; 9:96240781-96240781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.276C>T; p.I92I; 9:96254869-96254869 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.66G>A; p.A22A; 9:96302039-96302039 |
breast | carcinoma | Substitution - coding silent |
c.194C>T; p.S65L; 9:96298423-96298423 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.66G>A; p.A22A; 9:96302039-96302039 |
pancreas | carcinoma | Substitution - coding silent |
c.435C>T; p.N145N; 9:96251436-96251436 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.684A>G; p.P228P; 9:96240896-96240896 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.615G>T; p.V205V; 9:96244386-96244386 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.551C>A; p.S184Y; 9:96245400-96245400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.551C>A; p.S184Y; 9:96245400-96245400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.551C>A; p.S184Y; 9:96245400-96245400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.450C>T; p.I150I; 9:96251421-96251421 |
skin | malignant_melanoma | Substitution - coding silent |
c.424C>T; p.H142Y; 9:96251447-96251447 |
skin | malignant_melanoma | Substitution - Missense |
c.720T>G; p.N240K; 9:96240860-96240860 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766T>C; p.L256L; 9:96240814-96240814 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.201+1G>A; p.?; 9:96298415-96298415 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.108G>A; p.W36*; 9:96301997-96301997 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.210_211insA; p.R71fs*9; 9:96254934-96254935 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.445G>A; p.E149K; 9:96251426-96251426 |
skin | malignant_melanoma | Substitution - Missense |
c.858C>T; p.F286F; 9:96235535-96235535 |
breast | carcinoma | Substitution - coding silent |
c.489G>T; p.K163N; 9:96249751-96249751 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.247G>A; p.E83K; 9:96254898-96254898 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>T; p.H155Y; 9:96249777-96249777 |
skin | malignant_melanoma | Substitution - Missense |
c.643G>A; p.E215K; 9:96244358-96244358 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824C>T; p.A275V; 9:96235569-96235569 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.281G>A; p.R94Q; 9:96252907-96252907 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>A; p.S279N; 9:96235557-96235557 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.A207T; 9:96244382-96244382 |
pancreas | carcinoma | Substitution - Missense |
c.619G>A; p.A207T; 9:96244382-96244382 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.340G>A; p.E114K; 9:96252848-96252848 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.846G>A; p.P282P; 9:96235547-96235547 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.64G>A; p.A22T; 9:96302041-96302041 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.201+4A>T; p.?; 9:96298412-96298412 |
lung | carcinoma; adenocarcinoma | Unknown |
c.117G>A; p.L39L; 9:96301988-96301988 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.462C>T; p.I154I; 9:96249778-96249778 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.658G>T; p.E220*; 9:96244343-96244343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.658G>T; p.E220*; 9:96244343-96244343 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.808G>A; p.A270T; 9:96240772-96240772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.167C>T; p.A56V; 9:96298450-96298450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.844C>T; p.P282S; 9:96235549-96235549 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.167C>T; p.A56V; 9:96298450-96298450 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |