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

Basic Information

Gene ID

358

Name

AQP1

Synonymous

aquaporin 1 (Colton blood group);AQP1;aquaporin 1 (Colton blood group)

Definition

aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin-1|aquaporin-CHIP|channel-like integral membrane protein, 28-kDa|urine water channel|water channel protein for red blood cells and kidney proximal tubule

Position

7p14

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.457G>A; p.V153M; 7:30922138-30922138

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.231G>A; p.P77P; 7:30912140-30912140

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.132G>A; p.T44T; 7:30912041-30912041

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.538C>T; p.H180Y; 7:30922219-30922219

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.54C>A; p.F18L; 7:30911963-30911963

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.10G>A; p.E4K; 7:30911919-30911919

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.419G>T; p.G140V; 7:30922100-30922100

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.747G>A; p.Q249Q; 7:30923566-30923566

 kidneyother; neoplasmSubstitution - coding silent

c.798G>A; p.M266I; 7:30923617-30923617

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.440T>C; p.L147P; 7:30922121-30922121

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.411G>C; p.Q137H; 7:30922092-30922092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.78C>A; p.F26L; 7:30911987-30911987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.289T>C; p.Y97H; 7:30912198-30912198

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.503delC; p.A171fs*6; 7:30922184-30922184

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.21G>T; p.K7N; 7:30911930-30911930

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.725T>C; p.V242A; 7:30923544-30923544

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.384+1G>A; p.?; 7:30912294-30912294

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.675C>T; p.L225L; 7:30923494-30923494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.191C>T; p.A64V; 7:30912100-30912100

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.489C>T; p.D163D; 7:30922170-30922170

 livercarcinomaSubstitution - coding silent

c.489C>T; p.D163D; 7:30922170-30922170

 livercarcinomaSubstitution - coding silent

c.779T>A; p.I260N; 7:30923598-30923598

 livercarcinomaSubstitution - Missense

c.779T>A; p.I260N; 7:30923598-30923598

 livercarcinomaSubstitution - Missense

c.748G>A; p.V250M; 7:30923567-30923567

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.387G>T; p.L129L; 7:30922068-30922068

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.377G>A; p.R126H; 7:30912286-30912286

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.307G>T; p.V103L; 7:30912216-30912216

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.645G>A; p.G215G; 7:30923464-30923464

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.33G>T; p.W11C; 7:30911942-30911942

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744C>T; p.G248G; 7:30923563-30923563

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.384+1G>A; p.?; 7:30912294-30912294

 lungcarcinoma; small_cell_carcinomaUnknown

c.330C>T; p.A110A; 7:30912239-30912239

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.424G>A; p.E142K; 7:30922105-30922105

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.471C>T; p.T157T; 7:30922152-30922152

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.186G>A; p.T62T; 7:30912095-30912095

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.562G>A; p.G188S; 7:30922576-30922576

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.722G>C; p.R241P; 7:30923541-30923541

 ovaryother; neoplasmSubstitution - Missense

c.772G>A; p.D258N; 7:30923591-30923591

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.432C>T; p.I144I; 7:30922113-30922113

 skinmalignant_melanomaSubstitution - coding silent

c.721C>T; p.R241C; 7:30923540-30923540

 skinmalignant_melanomaSubstitution - Missense

c.516C>T; p.I172I; 7:30922197-30922197

 skinmalignant_melanomaSubstitution - coding silent

c.751G>A; p.E251K; 7:30923570-30923570

 skinmalignant_melanomaSubstitution - Missense

c.771C>T; p.A257A; 7:30923590-30923590

 skinmalignant_melanomaSubstitution - coding silent

c.399G>A; p.V133V; 7:30922080-30922080

 skinmalignant_melanomaSubstitution - coding silent

c.267C>T; p.I89I; 7:30912176-30912176

 skinmalignant_melanomaSubstitution - coding silent

c.695C>T; p.A232V; 7:30923514-30923514

 skinmalignant_melanomaSubstitution - Missense

c.318C>T; p.I106I; 7:30912227-30912227

 skinmalignant_melanomaSubstitution - coding silent

c.474C>T; p.D158D; 7:30922155-30922155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.601G>A; p.V201M; 7:30922615-30922615

 skinmalignant_melanomaSubstitution - Missense

c.645G>A; p.G215G; 7:30923464-30923464

 skinmalignant_melanomaSubstitution - coding silent

c.351C>T; p.S117S; 7:30912260-30912260

 skinmalignant_melanomaSubstitution - coding silent

c.697C>T; p.P233S; 7:30923516-30923516

 skinmalignant_melanomaSubstitution - Missense

c.698C>T; p.P233L; 7:30923517-30923517

 skinmalignant_melanomaSubstitution - Missense

c.141G>A; p.Q47Q; 7:30912050-30912050

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.587C>T; p.S196F; 7:30922601-30922601

 skinmalignant_melanomaSubstitution - Missense

c.730G>A; p.V244M; 7:30923549-30923549

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.553G>T; p.D185Y; 7:30922567-30922567

 urinary_tract; bladdercarcinomaSubstitution - Missense