Entrez Gene

Basic Information
Gene ID	343
Name	AQP8
Synonymous	aquaporin 8;AQP8;aquaporin 8
Definition	aquaporin-8
Position	16p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.401A>T; p.E134V; 16:25224375-25224375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.481G>A; p.E161K; 16:25224455-25224455	skin	malignant_melanoma	Substitution - Missense
c.197T>A; p.L66Q; 16:25217382-25217382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.237G>T; p.V79V; 16:25217422-25217422	pancreas	NS	Substitution - coding silent
c.237G>T; p.V79V; 16:25217422-25217422	pancreas	carcinoma	Substitution - coding silent
c.97C>T; p.R33W; 16:25217282-25217282	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>T; p.R33W; 16:25217282-25217282	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.602+1G>A; p.?; 16:25224577-25224577	stomach	carcinoma; adenocarcinoma	Unknown
c.705C>A; p.L235L; 16:25227170-25227170	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.760A>G; p.T254A; 16:25228466-25228466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.428C>T; p.A143V; 16:25224402-25224402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>A; p.G103R; 16:25221503-25221503	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.571G>A; p.G191S; 16:25224545-25224545	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.507C>T; p.A169A; 16:25224481-25224481	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.347C>G; p.S116*; 16:25221543-25221543	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.414G>A; p.W138*; 16:25224388-25224388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.144C>T; p.F48F; 16:25217329-25217329	skin	malignant_melanoma	Substitution - coding silent
c.144C>T; p.F48F; 16:25217329-25217329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.204G>T; p.P68P; 16:25217389-25217389	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.334C>T; p.P112S; 16:25221530-25221530	skin	malignant_melanoma	Substitution - Missense
c.158G>T; p.C53F; 16:25217343-25217343	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.234C>A; p.L78L; 16:25217419-25217419	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.427G>A; p.A143T; 16:25224401-25224401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653C>T; p.A218V; 16:25227118-25227118	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.357C>T; p.L119L; 16:25221553-25221553	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.105G>A; p.V35V; 16:25217290-25217290	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.778G>C; p.A260P; 16:25228484-25228484	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>C; p.A260P; 16:25228484-25228484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>C; p.A260P; 16:25228484-25228484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.132C>T; p.G44G; 16:25217317-25217317	skin	malignant_melanoma	Substitution - coding silent
c.662C>A; p.A221D; 16:25227127-25227127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.176A>G; p.N59S; 16:25217361-25217361	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.176A>G; p.N59S; 16:25217361-25217361	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>T; p.R255R; 16:25228471-25228471	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.98G>T; p.R33L; 16:25217283-25217283	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.A186A; 16:25224532-25224532	liver	carcinoma	Substitution - coding silent
c.354G>A; p.L118L; 16:25221550-25221550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.725G>T; p.G242V; 16:25227190-25227190	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.627G>A; p.M209I; 16:25227092-25227092	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.370G>A; p.G124R; 16:25221566-25221566	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.328C>T; p.L110F; 16:25221524-25221524	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>A; p.G124R; 16:25221566-25221566	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.251G>A; p.G84E; 16:25217436-25217436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.698G>T; p.G233V; 16:25227163-25227163	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.121G>A; p.E41K; 16:25217306-25217306	skin	malignant_melanoma	Substitution - Missense
c.486C>A; p.I162I; 16:25224460-25224460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.612G>T; p.V204V; 16:25227077-25227077	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.768C>T; p.L256L; 16:25228474-25228474	skin	malignant_melanoma	Substitution - coding silent
c.638G>A; p.R213H; 16:25227103-25227103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.638G>A; p.R213H; 16:25227103-25227103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638G>A; p.R213H; 16:25227103-25227103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336G>A; p.P112P; 16:25221532-25221532	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.695_696insG; p.L235fs*12; 16:25227160-25227161	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.521T>C; p.M174T; 16:25224495-25224495	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.192G>A; p.G64G; 16:25217377-25217377	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.16G>A; p.A6T; 16:25217201-25217201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.260+1G>A; p.?; 16:25217446-25217446	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.405G>A; p.E135E; 16:25224379-25224379	skin	malignant_melanoma	Substitution - coding silent
c.275A>G; p.N92S; 16:25221471-25221471	skin	malignant_melanoma	Substitution - Missense
c.275A>G; p.N92S; 16:25221471-25221471	NS	malignant_melanoma	Substitution - Missense
c.547G>T; p.G183C; 16:25224521-25224521	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.547G>T; p.G183C; 16:25224521-25224521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588G>T; p.V196V; 16:25224562-25224562	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.724delG; p.G242fs*17; 16:25227189-25227189	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.155G>A; p.G52E; 16:25217340-25217340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.G73R; 16:25217402-25217402	skin	malignant_melanoma	Substitution - Missense
c.509T>C; p.L170P; 16:25224483-25224483	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.246G>A; p.T82T; 16:25217431-25217431	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.358delG; p.M122fs*10; 16:25221554-25221554	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.358delG; p.M122fs*10; 16:25221554-25221554	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.113G>T; p.C38F; 16:25217298-25217298	breast	carcinoma	Substitution - Missense
c.515T>C; p.V172A; 16:25224489-25224489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>A; p.A212T; 16:25227099-25227099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.322G>C; p.V108L; 16:25221518-25221518	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80G>A; p.R27Q; 16:25217265-25217265	skin	malignant_melanoma	Substitution - Missense
c.306C>T; p.I102I; 16:25221502-25221502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.306C>T; p.I102I; 16:25221502-25221502	skin	malignant_melanoma	Substitution - coding silent
c.477G>T; p.V159V; 16:25224451-25224451	skin	malignant_melanoma	Substitution - coding silent
c.154G>A; p.G52R; 16:25217339-25217339	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.282G>A; p.A94A; 16:25221478-25221478	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.282G>A; p.A94A; 16:25221478-25221478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.763C>T; p.R255C; 16:25228469-25228469	pancreas	carcinoma	Substitution - Missense
c.150C>T; p.F50F; 16:25217335-25217335	skin	malignant_melanoma	Substitution - coding silent
c.687C>G; p.I229M; 16:25227152-25227152	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.609T>C; p.P203P; 16:25227074-25227074	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.706C>T; p.L236L; 16:25227171-25227171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.13-5G>A; p.?; 16:25217193-25217193	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.216C>T; p.H72H; 16:25217401-25217401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.53G>A; p.R18K; 16:25217238-25217238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]