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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

1591

Name

CYP24A1

Synonymous

cytochrome P450, family 24, subfamily A, polypeptide 1;CYP24A1;cytochrome P450, family 24, subfamily A, polypeptide 1

Definition

1,25-@dihydroxyvitamin D3 24-hydroxylase|1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial|24-OHase|cytochrome P450 24A1|cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450-CC24|exo-mitochondrial protein|vitamin D 24-hydroxyl

Position

20q13

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.82G>A; p.V28M; 20:54173498-54173498

 adrenal_gland; adrenal_glandadrenal_cortical_adenoma; aldosterone_producingSubstitution - Missense

c.42C>T; p.F14F; 20:54173538-54173538

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1195G>C; p.D399H; 20:54158127-54158127

 breastcarcinomaSubstitution - Missense

c.1540C>T; p.R514*; 20:54157184-54157184

 breastcarcinomaSubstitution - Nonsense

c.616G>T; p.E206*; 20:54169616-54169616

 breastcarcinomaSubstitution - Nonsense

c.1327G>C; p.E443Q; 20:54157495-54157495

 breastcarcinomaSubstitution - Missense

c.1110T>C; p.D370D; 20:54159004-54159004

 breastcarcinomaSubstitution - coding silent

c.1134A>T; p.K378N; 20:54158980-54158980

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1247T>C; p.M416T; 20:54157575-54157575

 breastcarcinomaSubstitution - Missense

c.449+2T>A; p.?; 20:54172907-54172907

 breastcarcinomaUnknown

c.696G>T; p.G232G; 20:54165778-54165778

 breastcarcinomaSubstitution - coding silent

c.879T>C; p.Y293Y; 20:54162828-54162828

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1346C>A; p.P449H; 20:54157476-54157476

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.408C>A; p.A136A; 20:54172950-54172950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.779A>G; p.H260R; 20:54164517-54164517

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.743C>T; p.T248M; 20:54164553-54164553

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1397G>A; p.R466Q; 20:54157425-54157425

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1329G>T; p.E443D; 20:54157493-54157493

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.579C>A; p.L193L; 20:54169653-54169653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.492G>T; p.K164N; 20:54171628-54171628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.704C>A; p.A235D; 20:54165770-54165770

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.416A>G; p.D139G; 20:54172942-54172942

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.102G>A; p.T34T; 20:54173478-54173478

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.945A>C; p.E315D; 20:54162762-54162762

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1100G>A; p.R367Q; 20:54159014-54159014

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1529C>T; p.A510V; 20:54157195-54157195

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.359G>T; p.R120L; 20:54172999-54172999

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.981G>A; p.A327A; 20:54162726-54162726

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.695G>A; p.G232E; 20:54165779-54165779

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1021delA; p.N341fs*31; 20:54159093-54159093

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.552C>T; p.A184A; 20:54169680-54169680

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1418A>G; p.H473R; 20:54157404-54157404

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.505C>T; p.P169S; 20:54171615-54171615

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1395C>G; p.R465R; 20:54157427-54157427

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1530G>A; p.A510A; 20:54157194-54157194

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1530G>A; p.A510A; 20:54157194-54157194

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.858C>T; p.I286I; 20:54162849-54162849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1119T>G; p.N373K; 20:54158995-54158995

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.804G>T; p.W268C; 20:54164492-54164492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1120A>G; p.M374V; 20:54158994-54158994

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1120A>G; p.M374V; 20:54158994-54158994

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1086G>T; p.E362D; 20:54159028-54159028

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1369G>A; p.V457I; 20:54157453-54157453

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.R310W; 20:54162779-54162779

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.180C>T; p.G60G; 20:54173400-54173400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1124C>T; p.P375L; 20:54158990-54158990

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1163C>T; p.T388M; 20:54158159-54158159

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.538A>G; p.N180D; 20:54171582-54171582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1529C>T; p.A510V; 20:54157195-54157195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.878A>G; p.Y293C; 20:54162829-54162829

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.132C>T; p.C44C; 20:54173448-54173448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1137C>T; p.A379A; 20:54158977-54158977

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.240G>A; p.K80K; 20:54173340-54173340

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.635T>G; p.F212C; 20:54169597-54169597

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.140C>T; p.T47I; 20:54173440-54173440

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.953C>T; p.A318V; 20:54162754-54162754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.211C>T; p.L71L; 20:54173369-54173369

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.51G>A; p.Q17Q; 20:54173529-54173529

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1125G>A; p.P375P; 20:54158989-54158989

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.865C>T; p.R289W; 20:54162842-54162842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099C>T; p.R367W; 20:54159015-54159015

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1340T>G; p.I447S; 20:54157482-54157482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.611A>G; p.Y204C; 20:54169621-54169621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.882T>A; p.S294S; 20:54162825-54162825

 livercarcinomaSubstitution - coding silent

c.1291G>A; p.D431N; 20:54157531-54157531

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>T; p.G110C; 20:54173030-54173030

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.977C>A; p.A326D; 20:54162730-54162730

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.353T>A; p.L118Q; 20:54173005-54173005

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.706G>T; p.V236L; 20:54165768-54165768

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.700G>A; p.E234K; 20:54165774-54165774

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.665A>G; p.K222R; 20:54165809-54165809

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.869_877delTAGAGAAGT; p.L290_K292delLEK; 20:54162830-54162838

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.831C>A; p.T277T; 20:54164465-54164465

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.412C>T; p.R138C; 20:54172946-54172946

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1320G>T; p.W440C; 20:54157502-54157502

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.660T>A; p.Y220*; 20:54165814-54165814

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.577C>T; p.L193F; 20:54169655-54169655

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1312G>C; p.E438Q; 20:54157510-54157510

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.760G>T; p.V254F; 20:54164536-54164536

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937A>C; p.K313Q; 20:54162770-54162770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1195G>A; p.D399N; 20:54158127-54158127

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522C>T; p.P508S; 20:54157202-54157202

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.L147L; 20:54172919-54172919

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1327G>A; p.E443K; 20:54157495-54157495

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1157+2T>C; p.?; 20:54158955-54158955

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1353G>A; p.A451A; 20:54157469-54157469

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.709A>T; p.N237Y; 20:54165765-54165765

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1369G>A; p.V457I; 20:54157453-54157453

 pancreascarcinomaSubstitution - Missense

c.346G>A; p.E116K; 20:54173012-54173012

 pancreascarcinomaSubstitution - Missense

c.806A>G; p.Q269R; 20:54164490-54164490

 pancreascarcinomaSubstitution - Missense

c.972G>A; p.Q324Q; 20:54162735-54162735

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.858C>A; p.I286I; 20:54162849-54162849

 prostatecarcinomaSubstitution - coding silent

c.969C>A; p.L323L; 20:54162738-54162738

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.234T>G; p.G78G; 20:54173346-54173346

 prostatecarcinomaSubstitution - coding silent

c.1234G>A; p.G412R; 20:54158088-54158088

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1360C>T; p.P454S; 20:54157462-54157462

 skinmalignant_melanomaSubstitution - Missense

c.551C>T; p.A184V; 20:54169681-54169681

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1345C>T; p.P449S; 20:54157477-54157477

 skinmalignant_melanomaSubstitution - Missense

c.1021A>T; p.N341Y; 20:54159093-54159093

 skinmalignant_melanomaSubstitution - Missense

c.590G>A; p.R197K; 20:54169642-54169642

 skin; scalpmalignant_melanomaSubstitution - Missense

c.1541G>A; p.R514Q; 20:54157183-54157183

 skinmalignant_melanomaSubstitution - Missense

c.388G>A; p.E130K; 20:54172970-54172970

 skinmalignant_melanomaSubstitution - Missense

c.1092G>A; p.Q364Q; 20:54159022-54159022

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1516G>A; p.E506K; 20:54157208-54157208

 skinmalignant_melanomaSubstitution - Missense

c.1516G>A; p.E506K; 20:54157208-54157208

 skinmalignant_melanomaSubstitution - Missense

c.1266G>A; p.L422L; 20:54157556-54157556

 skinmalignant_melanomaSubstitution - coding silent

c.875A>C; p.K292T; 20:54162832-54162832

 skinmalignant_melanomaSubstitution - Missense

c.1063G>A; p.E355K; 20:54159051-54159051

 skinmalignant_melanomaSubstitution - Missense

c.1333G>A; p.E445K; 20:54157489-54157489

 skinmalignant_melanomaSubstitution - Missense

c.42C>T; p.F14F; 20:54173538-54173538

 skinmalignant_melanomaSubstitution - coding silent

c.1268G>A; p.G423E; 20:54157554-54157554

 skinmalignant_melanomaSubstitution - Missense

c.1287T>C; p.F429F; 20:54157535-54157535

 skinmalignant_melanomaSubstitution - coding silent

c.1346C>T; p.P449L; 20:54157476-54157476

 skinmalignant_melanomaSubstitution - Missense

c.1530G>A; p.A510A; 20:54157194-54157194

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1331A>T; p.K444M; 20:54157491-54157491

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1331A>T; p.K444M; 20:54157491-54157491

 stomachadenocarcinomaSubstitution - Missense

c.1451A>G; p.D484G; 20:54157273-54157273

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.756G>T; p.M252I; 20:54164540-54164540

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1370T>C; p.V457A; 20:54157452-54157452

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.S123S; 20:54172989-54172989

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.370G>A; p.A124T; 20:54172988-54172988

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1302G>A; p.Q434Q; 20:54157520-54157520

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.513A>G; p.E171E; 20:54171607-54171607

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.889C>T; p.P297S; 20:54162818-54162818

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.469C>A; p.R157R; 20:54171651-54171651

 thyroidother; neoplasmSubstitution - coding silent

c.673G>T; p.G225W; 20:54165801-54165801

 thyroidother; neoplasmSubstitution - Missense

c.234T>G; p.G78G; 20:54173346-54173346

 thyroidother; neoplasmSubstitution - coding silent

c.114G>T; p.P38P; 20:54173466-54173466

 thyroidother; neoplasmSubstitution - coding silent

c.1123C>T; p.P375S; 20:54158991-54158991

 thyroidcarcinomaSubstitution - Missense

c.668G>T; p.R223I; 20:54165806-54165806

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1468A>T; p.N490Y; 20:54157256-54157256

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1468A>T; p.N490Y; 20:54157256-54157256

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1201G>A; p.A401T; 20:54158121-54158121

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.510G>T; p.G170G; 20:54171610-54171610

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.375C>T; p.Y125Y; 20:54172983-54172983

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.375C>T; p.Y125Y; 20:54172983-54172983

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1326G>A; p.Q442Q; 20:54157496-54157496

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.495A>G; p.K165K; 20:54171625-54171625

 urinary_tract; bladdercarcinomaSubstitution - coding silent