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Cell senescence database
General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

7013

Name

TERF1

Synonymous

telomeric repeat binding factor (NIMA-interacting) 1;TERF1;telomeric repeat binding factor (NIMA-interacting) 1

Definition

NIMA-interacting protein 2|TTAGGG repeat-binding factor 1|telomeric protein Pin2/TRF1|telomeric repeat-binding factor 1

Position

8q21.11

Gene Type

protein-coding

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.524T>C; p.L175S; 8:73020792-73020792

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.845A>G; p.D282G; 8:73027010-73027010

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.726T>G; p.S242R; 8:73024923-73024923

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.553A>T; p.M185L; 8:73022231-73022231

 skinmalignant_melanomaSubstitution - Missense

c.163_165delGAG; p.E62delE; 8:73009049-73009051

 skinmalignant_melanomaDeletion - In frame

c.625-1G>A; p.?; 8:73024821-73024821

 ovarycarcinoma; serous_carcinomaUnknown

c.449C>T; p.P150L; 8:73020717-73020717

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.842_844delATG; p.D282delD; 8:73027007-73027009

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.162_163insGAG; p.E62_D63insE; 8:73009048-73009049

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.672T>C; p.F224F; 8:73024869-73024869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.598A>C; p.I200L; 8:73022276-73022276

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.34C>G; p.P12A; 8:73008920-73008920

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.E36K; 8:73008992-73008992

 skinmalignant_melanomaSubstitution - Missense

c.106G>A; p.E36K; 8:73008992-73008992

 skinmalignant_melanomaSubstitution - Missense

c.200_201insGGCCGA; p.A72_V73insEA; 8:73009086-73009087

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - In frame

c.1045C>T; p.P349S; 8:73039181-73039181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.401C>G; p.A134G; 8:73013976-73013976

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1047G>A; p.P349P; 8:73039183-73039183

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.281G>C; p.R94P; 8:73009167-73009167

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.E71K; 8:73009097-73009097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.915G>A; p.K305K; 8:73032069-73032069

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.821C>A; p.S274Y; 8:73026986-73026986

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.976C>T; p.Q326*; 8:73032130-73032130

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Nonsense

c.976C>T; p.Q326*; 8:73032130-73032130

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Nonsense

c.55A>G; p.R19G; 8:73008941-73008941

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.946A>C; p.N316H; 8:73032100-73032100

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.755C>T; p.S252L; 8:73024952-73024952

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2T>C; p.M1T; 8:73008888-73008888

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.682T>G; p.F228V; 8:73024879-73024879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.723G>C; p.K241N; 8:73024920-73024920

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.613A>G; p.N205D; 8:73022291-73022291

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.230G>T; p.W77L; 8:73009116-73009116

 pancreascarcinomaSubstitution - Missense

c.334C>T; p.L112L; 8:73013909-73013909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.804G>A; p.R268R; 8:73026969-73026969

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.804G>A; p.R268R; 8:73026969-73026969

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1211G>T; p.W404L; 8:73046088-73046088

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.I108V; 8:73013897-73013897

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.841A>G; p.N281D; 8:73027006-73027006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.168G>T; p.E56D; 8:73009054-73009054

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1213A>G; p.R405G; 8:73046090-73046090

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231G>T; p.W77C; 8:73009117-73009117

 pancreascarcinomaSubstitution - Missense

c.234G>A; p.M78I; 8:73009120-73009120

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1126A>G; p.R376G; 8:73046003-73046003

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1238T>A; p.I413N; 8:73046115-73046115

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1047G>T; p.P349P; 8:73039183-73039183

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.401C>T; p.A134V; 8:73013976-73013976

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.617C>A; p.S206Y; 8:73022295-73022295

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.324T>C; p.I108I; 8:73013899-73013899

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1185G>C; p.R395R; 8:73046062-73046062

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.448C>T; p.P150S; 8:73020716-73020716

 skinmalignant_melanomaSubstitution - Missense

c.448C>T; p.P150S; 8:73020716-73020716

 skinmalignant_melanomaSubstitution - Missense

c.814A>C; p.I272L; 8:73026979-73026979

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; desmoplasticSubstitution - Missense

c.1218C>G; p.T406T; 8:73046095-73046095

 ovaryother; neoplasmSubstitution - coding silent

c.1218C>G; p.T406T; 8:73046095-73046095

 ovaryother; neoplasmSubstitution - coding silent

c.671T>G; p.F224C; 8:73024868-73024868

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7G>C; p.E3Q; 8:73008893-73008893

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.62C>T; p.A21V; 8:73008948-73008948

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.779C>T; p.A260V; 8:73026944-73026944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29C>A; p.P10Q; 8:73008915-73008915

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.310A>T; p.S104C; 8:73009196-73009196

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.P150P; 8:73020718-73020718

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.163G>A; p.E55K; 8:73009049-73009049

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.614A>C; p.N205T; 8:73022292-73022292

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.803G>T; p.R268M; 8:73026968-73026968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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