| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 359 |
Name | AQP2 |
Synonymous | AQP-CD|WCH-CD;aquaporin 2 (collecting duct);AQP2;aquaporin 2 (collecting duct) |
Definition | ADH water channel|AQP-2|aquaporin-2|aquaporin-CD|collecting duct water channel protein|water channel protein for renal collecting duct|water-channel aquaporin 2 |
Position | 12q12-q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for AQP2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
AQP2_intron; chr12; 50348108 |
SUB; INTRON; T; T/A; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.529C>A; p.H177N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.438C>T; p.F146F; |
oesophagus | carcinoma; adenocarcinoma |
c.73T>G; p.F25V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.384C>A; p.G128G; |
lung | carcinoma; small_cell_carcinoma |
c.259G>A; p.A87T; |
liver | carcinoma |
c.580G>A; p.V194I; |
lung | carcinoma; large_cell_carcinoma |
c.360+5G>T; p.?; |
breast | carcinoma |
c.525+6T>A; p.?; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.203A>C; p.N68T; |
autonomic_ganglia | neuroblastoma |
c.551A>T; p.N184I; 12:48634705-48634705 |
ovary | carcinoma; serous_carcinoma |
c.696G>C; p.E232D; |
lung | carcinoma; squamous_cell_carcinoma |
c.339C>T; p.R113R; 12:48631219-48631219 |
ovary | carcinoma; serous_carcinoma |
c.7G>T; p.E3*; |
ovary | carcinoma; serous_carcinoma |
c.340G>A; p.G114R; |
ovary | carcinoma; serous_carcinoma |
c.203A>C; p.N68T; |
lung | carcinoma; adenocarcinoma |
c.319A>C; p.I107L; |
lung | carcinoma; adenocarcinoma |
c.522T>A; p.L174L; |
lung | carcinoma; adenocarcinoma |
c.267C>A; p.Y89*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.339C>T; p.R113R; 12:48631219-48631219 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.580G>A; p.V194I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.432C>T; p.C144C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.209C>T; p.A70V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.455G>A; p.R152H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.42C>T; p.F14F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.151G>T; p.G51C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.203A>C; p.N68T; |
breast | carcinoma |
c.259G>A; p.A87T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.580G>A; p.V194I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.465G>A; p.E155E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.203A>C; p.N68T; |
cervix | carcinoma; squamous_cell_carcinoma |
c.337C>T; p.R113C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.580G>A; p.V194I; |
central_nervous_system; brain | glioma |
c.448G>A; p.D150N; |
skin | malignant_melanoma |
c.478C>A; p.P160T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |