| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5949 |
Name | RBP3 |
Synonymous | D10S64|D10S65|D10S66|IRBP|RBPI;retinol binding protein 3, interstitial;RBP3;retinol binding protein 3, interstitial |
Definition | interphotoreceptor retinoid-binding protein|retinol-binding protein 3 |
Position | 10q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RBP3 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
RBP3_L27P; chr10; 48390798 |
SUB; MISSENSE; A; A/G; SOMATIC | MB; VALID; WGS |
RBP3_E314K; chr10; 48389938 |
SUB; MISSENSE; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.490G>A; p.A164T; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.3317T>C; p.V1106A; |
NS | malignant_melanoma |
c.735C>T; p.I245I; |
NS | malignant_melanoma |
c.3317T>C; p.V1106A; |
NS | malignant_melanoma |
c.735C>T; p.I245I; |
NS | malignant_melanoma |
c.3430A>G; p.S1144G; |
lung | carcinoma; small_cell_carcinoma |
c.2899G>A; p.G967S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2899G>A; p.G967S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1348G>A; p.A450T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1412C>T; p.T471M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2356C>A; p.P786T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2828C>T; p.T943M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2729C>T; p.A910V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1180G>T; p.E394*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.548T>C; p.I183T; |
kidney | carcinoma; renal_cell_carcinoma |
c.1216G>A; p.E406K; 10:48009668-48009668 |
central_nervous_system; brain | glioma |
c.2011G>C; p.G671R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1589G>A; p.R530H; 10:48009295-48009295 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.684G>T; p.V228V; |
oesophagus | carcinoma; adenocarcinoma |
c.2637G>T; p.V879V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1412C>T; p.T471M; |
oesophagus | carcinoma; adenocarcinoma |
c.1609G>T; p.V537L; |
oesophagus | carcinoma; adenocarcinoma |
c.3676G>A; p.A1226T; |
oesophagus | carcinoma; adenocarcinoma |
c.3395G>A; p.R1132H; |
liver | carcinoma; hepatocellular_carcinoma |
c.3715C>T; p.R1239W; |
liver | carcinoma |
c.157C>A; p.Q53K; |
liver | carcinoma |
c.156C>T; p.I52I; |
liver | carcinoma |
c.2608G>T; p.E870*; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1834G>A; p.V612M; |
lung | carcinoma; large_cell_carcinoma |
c.2149C>A; p.P717T; |
lung | carcinoma; adenocarcinoma |
c.1267C>A; p.Q423K; |
lung | carcinoma; adenocarcinoma |
c.975C>A; p.A325A; |
lung | carcinoma; adenocarcinoma |
c.2325G>T; p.T775T; |
lung | carcinoma; adenocarcinoma |
c.1781C>A; p.P594Q; |
lung | carcinoma; adenocarcinoma |
c.1739C>A; p.P580Q; |
lung | carcinoma; adenocarcinoma |
c.2848G>C; p.D950H; |
lung | carcinoma; adenocarcinoma |
c.1037G>T; p.R346L; |
lung | carcinoma; adenocarcinoma |
c.1135G>T; p.A379S; |
lung | carcinoma; adenocarcinoma |
c.2561C>A; p.A854D; |
lung | carcinoma; adenocarcinoma |
c.699_700CC>TA; p.S233>?; |
lung | carcinoma; adenocarcinoma |
c.3741G>C; p.L1247L; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1588C>T; p.R530C; |
meninges | meningioma |
c.2989C>T; p.H997Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2056C>T; p.L686F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2373G>A; p.T791T; |
large_intestine; colon | adenoma |
c.727G>A; p.A243T; |
ovary | carcinoma; serous_carcinoma |
c.2372C>T; p.T791M; |
prostate | carcinoma |
c.2625C>T; p.G875G; |
prostate | carcinoma |
c.2590C>T; p.R864W; |
bone | chondrosarcoma |
c.3029G>A; p.R1010H; |
prostate | carcinoma |
c.972C>T; p.S324S; |
liver | carcinoma |
c.2256T>A; p.A752A; |
lung | carcinoma; small_cell_carcinoma |
c.80T>C; p.L27P; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype |
c.3024G>T; p.K1008N; |
lung | carcinoma; adenocarcinoma |
c.937C>T; p.L313L; |
lung | carcinoma; adenocarcinoma |
c.2965C>A; p.L989M; |
lung | carcinoma; adenocarcinoma |
c.2702C>T; p.A901V; |
lung | carcinoma; adenocarcinoma |
c.432G>T; p.L144L; |
lung | carcinoma; adenocarcinoma |
c.250G>A; p.D84N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1352C>G; p.S451C; |
lung | carcinoma; squamous_cell_carcinoma |
c.762G>A; p.V254V; |
lung | carcinoma; squamous_cell_carcinoma |
c.277C>T; p.P93S; |
lung | carcinoma; squamous_cell_carcinoma |
c.180G>T; p.E60D; |
lung | carcinoma; squamous_cell_carcinoma |
c.2131G>A; p.E711K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1834G>C; p.V612L; |
lung | carcinoma; adenocarcinoma |
c.3739C>T; p.L1247L; |
lung | carcinoma; adenocarcinoma |
c.2997G>T; p.K999N; |
lung | carcinoma; adenocarcinoma |
c.1364T>C; p.V455A; |
lung | carcinoma; adenocarcinoma |
c.1255G>A; p.E419K; |
lung | carcinoma; adenocarcinoma |
c.1200G>T; p.A400A; |
lung | carcinoma; adenocarcinoma |
c.308C>A; p.P103Q; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1790C>A; p.T597N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1257G>C; p.E419D; |
lung | carcinoma; squamous_cell_carcinoma |
c.2986C>A; p.P996T; |
lung | carcinoma; adenocarcinoma |
c.2253G>T; p.M751I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3123C>A; p.N1041K; |
lung | carcinoma; adenocarcinoma |
c.3592G>C; p.V1198L; |
lung | carcinoma; adenocarcinoma |
c.1465G>C; p.V489L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2101G>A; p.V701M; |
lung | carcinoma; squamous_cell_carcinoma |
c.2104T>G; p.F702V; |
lung | carcinoma; squamous_cell_carcinoma |
c.957C>A; p.I319I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1332C>T; p.F444F; |
lung | carcinoma; squamous_cell_carcinoma |
c.215G>T; p.S72I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1162C>A; p.R388R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2829G>T; p.T943T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2798T>G; p.L933R; |
lung | carcinoma; adenocarcinoma |
c.2015C>T; p.A672V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1531G>A; p.D511N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3467A>G; p.Y1156C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1894T>G; p.F632V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.947C>A; p.A316D; |
lung | carcinoma; adenocarcinoma |
c.1986_1987CC>AA; p.L663I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2626G>C; p.A876P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2768C>G; p.A923G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2742C>A; p.P914P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1328G>A; p.R443H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.250G>A; p.D84N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2692G>T; p.A898S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.664G>A; p.G222S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.711C>T; p.G237G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3449C>T; p.T1150I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3055-1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.612C>A; p.S204S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2812C>T; p.P938S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3219C>T; p.H1073H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.934G>A; p.A312T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3603G>A; p.S1201S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.773G>A; p.R258Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2324C>T; p.T775M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1590C>T; p.R530R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3366C>A; p.L1122L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3394C>T; p.R1132C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3270C>T; p.S1090S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.353A>C; p.Q118P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3471C>A; p.I1157I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1332C>T; p.F444F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3255C>T; p.I1085I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3424C>G; p.L1142V; |
urinary_tract; bladder | carcinoma |
c.3375C>T; p.H1125H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.393C>T; p.G131G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.81G>T; p.L27L; |
prostate | carcinoma; adenocarcinoma |
c.710delG; p.G237fs*33; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2185C>A; p.L729I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2417G>A; p.R806H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3246-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.411C>T; p.S137S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3586C>T; p.R1196C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2609A>G; p.E870G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1033G>A; p.D345N; |
urinary_tract; bladder | carcinoma |
c.250G>A; p.D84N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.201G>A; p.P67P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1026G>A; p.T342T; |
prostate | carcinoma; adenocarcinoma |
c.973G>A; p.A325T; |
prostate | carcinoma; adenocarcinoma |
c.2866G>A; p.E956K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2464G>A; p.E822K; |
urinary_tract; bladder | carcinoma |
c.2378T>C; p.I793T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1440C>T; p.H480H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1834G>A; p.V612M; |
central_nervous_system; brain | glioma |
c.716C>A; p.A239D; |
prostate | carcinoma |
c.2626G>A; p.A876T; |
prostate | carcinoma |
c.1279G>A; p.D427N; |
skin | malignant_melanoma |
c.554C>T; p.S185F; |
skin | malignant_melanoma |
c.215G>T; p.S72I; |
skin | malignant_melanoma |
c.1706_1707CC>TT; p.T569I; |
skin | malignant_melanoma |
c.1245G>T; p.L415F; |
skin | malignant_melanoma |
c.542C>T; p.P181L; |
skin | malignant_melanoma |
c.3622G>A; p.G1208R; |
skin | malignant_melanoma |
c.2818G>A; p.V940M; |
skin | malignant_melanoma |
c.2848G>A; p.D950N; |
skin | malignant_melanoma |
c.3577C>T; p.P1193S; |
skin; mucosal | malignant_melanoma |
c.482G>A; p.G161D; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.2298G>C; p.R766R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |