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

Basic Information

Gene ID

8277

Name

TKTL1

Synonymous

transketolase-like 1;TKTL1;transketolase-like 1

Definition

TK 2|transketolase-2|transketolase-like protein 1|transketolase-related protein

Position

Xq28

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.671G>C; p.S224T; 23:154312580-154312580

 adrenal_gland; adrenal_glandadrenal_cortical_adenoma; aldosterone_producingSubstitution - Missense

c.406G>C; p.E136Q; 23:154310891-154310891

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.753G>T; p.Q251H; 23:154312662-154312662

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.112G>T; p.A38S; 23:154295971-154295971

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1183G>C; p.V395L; 23:154320910-154320910

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1367C>A; p.T456N; 23:154325388-154325388

 breastcarcinomaSubstitution - Missense

c.3G>T; p.M1I; 23:154295862-154295862

 breastcarcinomaSubstitution - Missense

c.719G>A; p.R240K; 23:154312628-154312628

 breastcarcinomaSubstitution - Missense

c.1407C>T; p.L469L; 23:154327596-154327596

 breastcarcinomaSubstitution - coding silent

c.158C>A; p.S53Y; 23:154305327-154305327

 breastcarcinomaSubstitution - Missense

c.54G>T; p.R18S; 23:154295913-154295913

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.928G>A; p.V310I; 23:154315236-154315236

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.475G>T; p.G159*; 23:154310960-154310960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1413C>T; p.H471H; 23:154327602-154327602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1716C>T; p.S572S; 23:154329613-154329613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1513G>A; p.V505I; 23:154327853-154327853

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1042C>A; p.L348M; 23:154320769-154320769

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1410C>T; p.R470R; 23:154327599-154327599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.885C>T; p.C295C; 23:154315193-154315193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1586G>A; p.R529Q; 23:154327926-154327926

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.186C>A; p.F62L; 23:154305355-154305355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.126G>A; p.T42T; 23:154295985-154295985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.485G>A; p.G162D; 23:154310970-154310970

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.289G>A; p.G97R; 23:154309381-154309381

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.236G>A; p.R79Q; 23:154305405-154305405

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.95G>A; p.R32Q; 23:154295954-154295954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1334G>A; p.R445Q; 23:154325355-154325355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1647C>T; p.A549A; 23:154329544-154329544

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - coding silent

c.1647C>T; p.A549A; 23:154329544-154329544

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.20G>C; p.R7T; 23:154295879-154295879

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.263T>A; p.F88Y; 23:154309355-154309355

 kidneyother; neoplasmSubstitution - Missense

c.919A>G; p.N307D; 23:154315227-154315227

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1403T>C; p.V468A; 23:154327592-154327592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.540T>C; p.F180F; 23:154311025-154311025

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1191C>T; p.D397D; 23:154323211-154323211

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1124G>A; p.R375Q; 23:154320851-154320851

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1691C>T; p.S564L; 23:154329588-154329588

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772C>A; p.L258I; 23:154312681-154312681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.A305T; 23:154315221-154315221

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1177G>T; p.V393L; 23:154320904-154320904

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1174delG; p.V393fs*16; 23:154320901-154320901

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.361T>G; p.F121V; 23:154310846-154310846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.A151V; 23:154310937-154310937

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1648G>A; p.V550I; 23:154329545-154329545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928G>A; p.V310I; 23:154315236-154315236

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.928G>A; p.V310I; 23:154315236-154315236

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1160T>C; p.I387T; 23:154320887-154320887

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.R176C; 23:154311011-154311011

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.927C>T; p.V309V; 23:154315235-154315235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131A>G; p.G377G; 23:154320858-154320858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131A>G; p.G377G; 23:154320858-154320858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.551C>T; p.T184I; 23:154311119-154311119

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1491G>A; p.S497S; 23:154327680-154327680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.339C>T; p.F113F; 23:154309431-154309431

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.89G>A; p.R30H; 23:154295948-154295948

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1152C>T; p.I384I; 23:154320879-154320879

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.764G>T; p.S255I; 23:154312673-154312673

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1411C>A; p.H471N; 23:154327600-154327600

 livercarcinomaSubstitution - Missense

c.1364A>G; p.Y455C; 23:154325385-154325385

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.520C>G; p.Q174E; 23:154311005-154311005

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.243C>A; p.V81V; 23:154305412-154305412

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1264C>A; p.P422T; 23:154323284-154323284

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.430T>G; p.Y144D; 23:154310915-154310915

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>T; p.K416N; 23:154323268-154323268

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1619-3C>G; p.?; 23:154329513-154329513

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1342C>T; p.R448*; 23:154325363-154325363

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.161C>T; p.S54F; 23:154305330-154305330

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1619-4C>A; p.?; 23:154329512-154329512

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1055C>T; p.S352F; 23:154320782-154320782

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1581G>T; p.E527D; 23:154327921-154327921

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.506G>A; p.C169Y; 23:154310991-154310991

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.148T>C; p.C50R; 23:154305317-154305317

 NSNSSubstitution - Missense

c.148T>C; p.C50R; 23:154305317-154305317

 NSNSSubstitution - Missense

c.875G>A; p.R292Q; 23:154315183-154315183

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1480G>A; p.D494N; 23:154327669-154327669

 oesophaguscarcinomaSubstitution - Missense

c.491T>A; p.L164*; 23:154310976-154310976

 oesophaguscarcinomaSubstitution - Nonsense

c.736_748del13; p.K246fs*26; 23:154312645-154312657

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.943G>A; p.D315N; 23:154315251-154315251

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1130G>C; p.G377A; 23:154320857-154320857

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1472C>G; p.A491G; 23:154327661-154327661

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.853G>T; p.V285F; 23:154312762-154312762

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.128G>A; p.S43N; 23:154295987-154295987

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1499-8T>C; p.?; 23:154327831-154327831

 pancreascarcinomaUnknown

c.526C>T; p.R176C; 23:154311011-154311011

 prostatecarcinomaSubstitution - Missense

c.1627G>T; p.G543W; 23:154329524-154329524

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1557C>T; p.I519I; 23:154327897-154327897

 skinmalignant_melanomaSubstitution - coding silent

c.784C>T; p.P262S; 23:154312693-154312693

 skinmalignant_melanomaSubstitution - Missense

c.387C>T; p.S129S; 23:154310872-154310872

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1490C>G; p.S497W; 23:154327679-154327679

 skinmalignant_melanomaSubstitution - Missense

c.876G>A; p.R292R; 23:154315184-154315184

 skinmalignant_melanomaSubstitution - coding silent

c.1738G>A; p.G580R; 23:154329635-154329635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.135-3C>T; p.?; 23:154305301-154305301

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.126G>A; p.T42T; 23:154295985-154295985

 skinmalignant_melanomaSubstitution - coding silent

c.1518C>T; p.I506I; 23:154327858-154327858

 skinmalignant_melanomaSubstitution - coding silent

c.202A>G; p.K68E; 23:154305371-154305371

 skinmalignant_melanomaSubstitution - Missense

c.1509C>T; p.I503I; 23:154327849-154327849

 skinmalignant_melanomaSubstitution - coding silent

c.110G>A; p.R37K; 23:154295969-154295969

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1710G>T; p.G570G; 23:154329607-154329607

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1419C>A; p.V473V; 23:154327608-154327608

 skinmalignant_melanomaSubstitution - coding silent

c.298C>T; p.L100L; 23:154309390-154309390

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1425C>G; p.D475E; 23:154327614-154327614

 skinmalignant_melanomaSubstitution - Missense

c.1675C>T; p.H559Y; 23:154329572-154329572

 skinmalignant_melanomaSubstitution - Missense

c.474G>T; p.L158L; 23:154310959-154310959

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1657G>A; p.D553N; 23:154329554-154329554

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1036G>A; p.V346M; 23:154320763-154320763

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.475G>T; p.G159*; 23:154310960-154310960

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.504C>T; p.H168H; 23:154310989-154310989

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.814A>G; p.I272V; 23:154312723-154312723

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.17C>T; p.A6V; 23:154295876-154295876

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1106G>A; p.R369Q; 23:154320833-154320833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.G94E; 23:154309373-154309373

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1585C>T; p.R529W; 23:154327925-154327925

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1744A>G; p.S582G; 23:154329641-154329641

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5C>T; p.A2V; 23:154295864-154295864

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.175G>A; p.V59M; 23:154305344-154305344

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.L123L; 23:154310854-154310854

 thyroidother; neoplasmSubstitution - coding silent

c.1669C>T; p.Q557*; 23:154329566-154329566

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.122C>T; p.S41F; 23:154295981-154295981

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.93G>T; p.L31F; 23:154295952-154295952

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.93G>T; p.L31F; 23:154295952-154295952

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.874C>T; p.R292W; 23:154315182-154315182

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.125C>T; p.T42M; 23:154295984-154295984

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.125C>T; p.T42M; 23:154295984-154295984

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.622A>T; p.K208*; 23:154311190-154311190

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.621C>T; p.H207H; 23:154311189-154311189

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.83C>T; p.A28V; 23:154295942-154295942

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.83C>T; p.A28V; 23:154295942-154295942

 urinary_tract; bladdercarcinomaSubstitution - Missense