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

Basic Information

Gene ID

5076

Name

PAX2

Synonymous

paired box 2;PAX2;paired box 2

Definition

paired box homeotic gene 2|paired box protein Pax-2

Position

10q24

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.675G>C; p.R225R; 10:100806488-100806488

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.873G>T; p.E291D; 10:100809190-100809190

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.923G>A; p.R308H; 10:100824651-100824651

 breastcarcinomaSubstitution - Missense

c.310C>T; p.R104*; 10:100750791-100750791

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.567G>A; p.G189G; 10:100781316-100781316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.832G>A; p.D278N; 10:100809149-100809149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.991C>A; p.P331T; 10:100824719-100824719

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.656G>T; p.S219I; 10:100806469-100806469

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.173T>A; p.L58Q; 10:100749875-100749875

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.269_270insT; p.A91fs*11; 10:100750750-100750751

 kidneycarcinoma; clear_cell_renal_cell_carcinomaInsertion - Frameshift

c.268_269insT; p.A91fs*11; 10:100750749-100750750

 kidneycarcinoma; clear_cell_renal_cell_carcinomaInsertion - Frameshift

c.674G>A; p.R225Q; 10:100806487-100806487

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.36G>A; p.A12A; 10:100746296-100746296

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.607C>T; p.R203C; 10:100781356-100781356

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.R247C; 10:100806552-100806552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.69_70insG; p.V26fs*28; 10:100749771-100749772

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.69_70insG; p.V26fs*28; 10:100749771-100749772

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.275C>T; p.T92M; 10:100750756-100750756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535A>G; p.N179D; 10:100781284-100781284

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.330C>T; p.F110F; 10:100750811-100750811

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.673C>T; p.R225W; 10:100806486-100806486

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.V132I; 10:100750875-100750875

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1127G>A; p.R376H; 10:100827031-100827031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.87C>T; p.N29N; 10:100749789-100749789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.509C>A; p.A170D; 10:100781258-100781258

 livercarcinomaSubstitution - Missense

c.509C>A; p.A170D; 10:100781258-100781258

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.55G>A; p.G19S; 10:100749757-100749757

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.929T>A; p.M310K; 10:100824657-100824657

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.310C>A; p.R104R; 10:100750791-100750791

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.727C>T; p.R243W; 10:100806540-100806540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.696C>G; p.T232T; 10:100806509-100806509

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.811C>A; p.P271T; 10:100809128-100809128

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.141G>T; p.Q47H; 10:100749843-100749843

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634G>A; p.V212I; 10:100806447-100806447

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.654G>C; p.Q218H; 10:100806467-100806467

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96C>T; p.P32P; 10:100749798-100749798

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.885C>A; p.N295K; 10:100809202-100809202

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.106G>C; p.V36L; 10:100749808-100749808

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.22G>C; p.D8H; 10:100746282-100746282

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.959C>T; p.P320L; 10:100824687-100824687

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.454G>T; p.D152Y; 10:100779541-100779541

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.443A>T; p.H148L; 10:100779530-100779530

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.944T>C; p.L315P; 10:100824672-100824672

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.740G>A; p.R247H; 10:100806553-100806553

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.602G>T; p.R201M; 10:100781351-100781351

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.755A>G; p.D252G; 10:100806568-100806568

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.682T>G; p.L228V; 10:100806495-100806495

 pancreascarcinomaSubstitution - Missense

c.933G>A; p.A311A; 10:100824661-100824661

 prostatecarcinomaSubstitution - coding silent

c.869C>A; p.P290H; 10:100809186-100809186

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.689C>G; p.A230G; 10:100806502-100806502

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.164C>T; p.S55F; 10:100749866-100749866

 skinmalignant_melanomaSubstitution - Missense

c.496+1G>A; p.?; 10:100779584-100779584

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.465G>A; p.G155G; 10:100779552-100779552

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.727C>T; p.R243W; 10:100806540-100806540

 skinmalignant_melanomaSubstitution - Missense

c.727C>T; p.R243W; 10:100806540-100806540

 skinmalignant_melanomaSubstitution - Missense

c.727C>T; p.R243W; 10:100806540-100806540

 skin; scalpmalignant_melanomaSubstitution - Missense

c.780C>T; p.I260I; 10:100806593-100806593

 skinmalignant_melanomaSubstitution - coding silent

c.558C>T; p.S186S; 10:100781307-100781307

 skinmalignant_melanomaSubstitution - coding silent

c.1064G>A; p.G355E; 10:100824944-100824944

 skinmalignant_melanomaSubstitution - Missense

c.807C>T; p.S269S; 10:100809124-100809124

 skinmalignant_melanomaSubstitution - coding silent

c.602G>A; p.R201K; 10:100781351-100781351

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.772G>A; p.E258K; 10:100806585-100806585

 skinmalignant_melanomaSubstitution - Missense

c.580C>T; p.P194S; 10:100781329-100781329

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.686G>A; p.R229Q; 10:100806499-100806499

 skinmalignant_melanomaSubstitution - Missense

c.686G>A; p.R229Q; 10:100806499-100806499

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.610G>A; p.D204N; 10:100781359-100781359

 skinmalignant_melanomaSubstitution - Missense

c.235A>G; p.K79E; 10:100750716-100750716

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.989A>G; p.Y330C; 10:100824717-100824717

 skinmalignant_melanomaSubstitution - Missense

c.566G>A; p.G189E; 10:100781315-100781315

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.959C>T; p.P320L; 10:100824687-100824687

 skinmalignant_melanomaSubstitution - Missense

c.811C>T; p.P271S; 10:100809128-100809128

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4G>A; p.D2N; 10:100746264-100746264

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.454G>A; p.D152N; 10:100779541-100779541

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.173T>A; p.L58Q; 10:100749875-100749875

 soft_tissue; striated_musclerhabdomyosarcoma; sclerosingSubstitution - Missense

c.1119G>A; p.P373P; 10:100827023-100827023

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.75G>A; p.G25G; 10:100749777-100749777

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.665A>G; p.D222G; 10:100806478-100806478

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.350G>A; p.R117Q; 10:100750831-100750831

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense