| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 554 |
Name | AVPR2 |
Synonymous | ADHR|DI1|DIR|DIR3|NDI|V2R;arginine vasopressin receptor 2;AVPR2;arginine vasopressin receptor 2 |
Definition | AVPR V2|antidiuretic hormone receptor|renal-type arginine vasopressin receptor|vasopressin V2 receptor |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for AVPR2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
AVPR2_N321K; chrX; 153172029 |
SUB; MISSENSE; C; C/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.463C>A; p.H155N; |
thyroid | carcinoma; medullary_carcinoma |
c.187G>A; p.A63T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.739_750del12; p.R247_G250delRRRG; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.918C>T; p.P306P; |
NS | NS |
c.740G>A; p.R247H; 23:152824894-152824894 |
breast | carcinoma; ductal_carcinoma |
c.739_750del12; p.R247_G250delRRRG; |
skin; trunk | malignant_melanoma |
c.261C>T; p.A87A; |
lung | carcinoma; small_cell_carcinoma |
c.1044A>C; p.P348P; |
lung | carcinoma; small_cell_carcinoma |
c.559A>T; p.S187C; |
autonomic_ganglia | neuroblastoma |
c.817A>G; p.T273A; |
lung | carcinoma; adenocarcinoma |
c.494_503del10; p.L168fs*41; |
ovary | carcinoma; serous_carcinoma |
c.751C>A; p.R251S; |
lung | carcinoma; squamous_cell_carcinoma |
c.352C>A; p.L118M; |
lung | carcinoma; squamous_cell_carcinoma |
c.938T>A; p.L313Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.804G>C; p.K268N; |
lung | carcinoma; squamous_cell_carcinoma |
c.495C>A; p.A165A; |
lung | carcinoma; adenocarcinoma |
c.784G>T; p.V262L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.638T>G; p.V213G; |
lung | carcinoma; adenocarcinoma |
c.679C>G; p.L227V; |
lung | carcinoma; adenocarcinoma |
c.845T>G; p.L282R; |
lung | carcinoma; adenocarcinoma |
c.1003G>C; p.E335Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.961A>G; p.N321D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.72C>A; p.S24R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.755G>A; p.R252Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1013G>A; p.S338N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.697C>A; p.H233N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.605G>A; p.R202H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.989G>A; p.S330N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.337C>T; p.R113W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.415C>T; p.R139C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.446G>A; p.R149H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.642C>T; p.F214F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.618C>T; p.V206V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.87G>T; p.L29L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1010G>A; p.R337Q; |
breast | carcinoma |
c.755G>A; p.R252Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.796G>T; p.V266L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.202C>T; p.R68W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.590C>T; p.A197V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.591G>A; p.A197A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.642C>T; p.F214F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.739C>T; p.R247C; |
breast | carcinoma |
c.445C>T; p.R149C; |
breast | carcinoma |