Cancer metastasis gene database Home
Cancer metastasis database
General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

759

Name

CA1

Synonymous

carbonic anhydrase I;CA1;carbonic anhydrase I

Definition

carbonate dehydratase I|carbonic anhydrase 1|carbonic anhydrase B|epididymis secretory protein Li 11

Position

8q21.2

Gene Type

protein-coding

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.769G>C; p.V257L; 8:85328577-85328577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.211T>G; p.F71V; 8:85338276-85338276

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.495C>T; p.L165L; 8:85332508-85332508

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.495C>T; p.L165L; 8:85332508-85332508

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.277C>T; p.Q93*; 8:85337022-85337022

 skinmalignant_melanomaSubstitution - Nonsense

c.270G>C; p.R90S; 8:85337029-85337029

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.237G>A; p.V79V; 8:85337062-85337062

 kidneyother; neoplasmSubstitution - coding silent

c.556C>T; p.L186F; 8:85329802-85329802

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.351C>T; p.A117A; 8:85336948-85336948

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.17G>A; p.W6*; 8:85341619-85341619

 skinmalignant_melanomaSubstitution - Nonsense

c.20G>A; p.G7E; 8:85341616-85341616

 skinmalignant_melanomaSubstitution - Missense

c.723delC; p.M242fs*11; 8:85328623-85328623

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.223G>A; p.D75N; 8:85338264-85338264

 skinmalignant_melanomaSubstitution - Missense

c.686G>T; p.S229I; 8:85328660-85328660

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.321A>C; p.E107D; 8:85336978-85336978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514G>T; p.G172C; 8:85329844-85329844

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.517A>G; p.K173E; 8:85329841-85329841

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.192_193insG; p.H65fs*8; 8:85338294-85338295

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.116C>A; p.T39N; 8:85338371-85338371

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.229C>T; p.R77*; 8:85338258-85338258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.608C>T; p.P203L; 8:85329750-85329750

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451G>A; p.V151I; 8:85332552-85332552

 skinmalignant_melanomaSubstitution - Missense

c.318A>T; p.S106S; 8:85336981-85336981

 pleurapulmonary_blastomaSubstitution - coding silent

c.83A>C; p.N28T; 8:85338404-85338404

 skinmalignant_melanomaSubstitution - Missense

c.214G>A; p.E72K; 8:85338273-85338273

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.687C>A; p.S229R; 8:85328659-85328659

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.175G>T; p.E59*; 8:85338312-85338312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.175G>T; p.E59*; 8:85338312-85338312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.175G>T; p.E59*; 8:85338312-85338312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.528A>G; p.P176P; 8:85329830-85329830

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.443_444insT; p.L148fs*6; 8:85333531-85333532

 salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaInsertion - Frameshift

c.760G>A; p.G254S; 8:85328586-85328586

 skinmalignant_melanomaSubstitution - Missense

c.358C>A; p.H120N; 8:85333617-85333617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.705A>G; p.E235E; 8:85328641-85328641

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.494T>C; p.L165P; 8:85332509-85332509

 central_nervous_system; braingliomaSubstitution - Missense

c.463A>C; p.N155H; 8:85332540-85332540

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.462C>T; p.A154A; 8:85332541-85332541

 skinmalignant_melanomaSubstitution - coding silent

c.539T>G; p.F180C; 8:85329819-85329819

 breastcarcinomaSubstitution - Missense

c.19G>A; p.G7R; 8:85341617-85341617

 skinmalignant_melanomaSubstitution - Missense

c.714C>T; p.N238N; 8:85328632-85328632

 skinmalignant_melanomaSubstitution - coding silent

c.357delT; p.H120fs*2; 8:85333618-85333618

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.514-3C>T; p.?; 8:85329847-85329847

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.180T>G; p.I60M; 8:85338307-85338307

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.629G>T; p.W210L; 8:85329729-85329729

 livercarcinomaSubstitution - Missense

c.777T>A; p.A259A; 8:85328569-85328569

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.493C>A; p.L165I; 8:85332510-85332510

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.717T>A; p.A239A; 8:85328629-85328629

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.543C>G; p.D181E; 8:85329815-85329815

 breastcarcinomaSubstitution - Missense

c.571G>C; p.D191H; 8:85329787-85329787

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.271C>T; p.L91F; 8:85337028-85337028

 skinmalignant_melanomaSubstitution - Missense

c.271C>T; p.L91F; 8:85337028-85337028

 skinmalignant_melanomaSubstitution - Missense

c.76G>A; p.G26R; 8:85338411-85338411

 skinmalignant_melanomaSubstitution - Missense

c.76G>A; p.G26R; 8:85338411-85338411

 skinmalignant_melanomaSubstitution - Missense

c.657C>T; p.V219V; 8:85329701-85329701

 breastcarcinomaSubstitution - coding silent

c.129C>A; p.T43T; 8:85338358-85338358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.319G>T; p.E107*; 8:85336980-85336980

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.51G>C; p.W17C; 8:85338436-85338436

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.545C>A; p.P182H; 8:85329813-85329813

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.268A>G; p.R90G; 8:85337031-85337031

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.739C>A; p.R247S; 8:85328607-85328607

 skin; subungualmalignant_melanoma; acral_lentiginousSubstitution - Missense

c.739C>A; p.R247S; 8:85328607-85328607

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.309G>T; p.E103D; 8:85336990-85336990

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.A239T; 8:85328631-85328631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.515G>A; p.G172D; 8:85329843-85329843

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.11C>A; p.P4Q; 8:85341625-85341625

 skinmalignant_melanomaSubstitution - Missense

c.605C>G; p.P202R; 8:85329753-85329753

 skinmalignant_melanomaSubstitution - Missense

c.97G>T; p.D33Y; 8:85338390-85338390

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.289C>T; p.H97Y; 8:85337010-85337010

 ovarycarcinoma; adenocarcinomaSubstitution - Missense

c.238C>T; p.L80L; 8:85337061-85337061

 kidneyother; neoplasmSubstitution - coding silent

c.347C>A; p.S116Y; 8:85336952-85336952

 central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastoma; classicSubstitution - Missense

c.123T>C; p.H41H; 8:85338364-85338364

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.183C>T; p.I61I; 8:85338304-85338304

 skinmalignant_melanomaSubstitution - coding silent

c.273C>T; p.L91L; 8:85337026-85337026

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.737A>C; p.N246T; 8:85328609-85328609

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.722C>A; p.P241H; 8:85328624-85328624

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.681C>T; p.F227F; 8:85328665-85328665

 skinmalignant_melanomaSubstitution - coding silent

c.254T>C; p.F85S; 8:85337045-85337045

 pleurapulmonary_blastomaSubstitution - Missense

c.747C>A; p.T249T; 8:85328599-85328599

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.297C>T; p.G99G; 8:85337002-85337002

 pancreascarcinomaSubstitution - coding silent

c.177A>C; p.E59D; 8:85338310-85338310

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense