| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4854 |
Name | NOTCH3 |
Synonymous | CADASIL|CASIL;notch 3;NOTCH3;notch 3 |
Definition | Notch homolog 3|neurogenic locus notch homolog protein 3 |
Position | 19p13.2-p13.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NOTCH3 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
NOTCH3_I456fs; chr19; 15299812 |
IFRAMESHIFT; -; -/GA; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2202C>T; p.A734A; |
lung | carcinoma; undifferentiated_carcinoma |
c.5095C>G; p.Q1699E; |
breast | carcinoma; HER-positive_carcinoma |
c.1524G>A; p.V508V; |
prostate | carcinoma |
c.4834G>T; p.G1612*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2985G>A; p.P995P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1238G>A; p.G413D; |
lung | carcinoma; squamous_cell_carcinoma |
c.5488C>T; p.Q1830*; |
prostate | carcinoma |
c.2741C>T; p.P914L; 19:15153438-15153438 |
lung | carcinoma; adenocarcinoma |
c.6221C>T; p.P2074L; 19:15133218-15133218 |
lung | carcinoma; adenocarcinoma |
c.972C>T; p.F324F; |
skin; nipple | malignant_melanoma |
c.973C>T; p.H325Y; |
skin; nipple | malignant_melanoma |
c.6953A>T; p.Q2318L; |
lung | carcinoma; small_cell_carcinoma |
c.3563G>A; p.G1188D; |
lung | carcinoma; small_cell_carcinoma |
c.1130G>T; p.C377F; |
lung | carcinoma; small_cell_carcinoma |
c.3291delG; p.T1098fs*174; |
NS | malignant_melanoma |
c.5095C>T; p.Q1699*; |
skin; upper_leg | malignant_melanoma |
c.4615C>T; p.L1539L; |
skin; upper_leg | malignant_melanoma |
c.4451G>A; p.C1484Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5323G>A; p.A1775T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3011G>A; p.C1004Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4921G>A; p.V1641I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.649G>A; p.D217N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3692G>A; p.R1231H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2716G>A; p.A906T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.747delG; p.T250fs*122; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4531G>A; p.G1511S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5354G>A; p.R1785H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4576C>T; p.R1526C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4781C>T; p.S1594L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3371A>G; p.D1124G; |
lung | carcinoma; adenocarcinoma |
c.3310G>T; p.G1104W; |
lung | carcinoma; adenocarcinoma |
c.4975G>A; p.V1659I; |
pancreas | carcinoma; acinar_carcinoma |
c.6015C>G; p.D2005E; |
pancreas | carcinoma; acinar_carcinoma |
c.3463G>A; p.V1155M; 19:15151091-15151091 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.790C>A; p.P264T; |
liver | carcinoma; hepatocellular_carcinoma |
c.5245C>T; p.Q1749*; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.3149G>T; p.R1050L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.337C>T; p.R113*; |
oesophagus | carcinoma; adenocarcinoma |
c.4625C>T; p.S1542L; |
oesophagus | carcinoma; adenocarcinoma |
c.4305C>T; p.R1435R; |
oesophagus | carcinoma; adenocarcinoma |
c.5007C>T; p.R1669R; |
oesophagus | carcinoma; adenocarcinoma |
c.4637G>A; p.R1546H; |
oesophagus | carcinoma; adenocarcinoma |
c.1121G>T; p.R374L; |
oesophagus | carcinoma; adenocarcinoma |
c.3607G>A; p.E1203K; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5809G>A; p.E1937K; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5114+2T>A; p.?; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1036+1G>T; p.?; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.3607G>A; p.E1203K; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5809G>A; p.E1937K; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.5114+2T>A; p.?; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.3161T>G; p.L1054R; |
endometrium | carcinoma; serous_carcinoma |
c.1790G>C; p.C597S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.5779G>A; p.A1927T; |
stomach | carcinoma; adenocarcinoma |
c.6953A>T; p.Q2318L; |
lung | carcinoma; small_cell_carcinoma |
c.3563G>A; p.G1188D; |
lung | carcinoma; small_cell_carcinoma |
c.687G>C; p.E229D; |
lung | carcinoma; large_cell_carcinoma |
c.3450A>G; p.P1150P; |
liver | carcinoma |
c.2330C>A; p.P777Q; |
liver | carcinoma |
c.2029A>C; p.N677H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6923G>A; p.G2308E; |
liver | carcinoma |
c.6569C>T; p.A2190V; |
liver | carcinoma |
c.63G>A; p.P21P; |
liver | carcinoma |
c.6380A>T; p.Y2127F; |
liver | carcinoma |
c.5007C>T; p.R1669R; |
liver | carcinoma |
c.1919G>A; p.R640H; |
liver | carcinoma |
c.4821C>T; p.A1607A; |
liver | carcinoma |
c.1674C>T; p.R558R; |
large_intestine; colon | carcinoma |
c.1300G>A; p.E434K; |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma |
c.1227G>T; p.V409V; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1850G>C; p.C617S; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.4766G>A; p.R1589Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.4417A>T; p.K1473*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.5500C>T; p.R1834W; |
liver | carcinoma |
c.2492G>A; p.G831E; |
skin; leg | malignant_melanoma |
c.2492G>A; p.G831E; |
skin; leg | malignant_melanoma |
c.5548G>A; p.A1850T; |
lung | carcinoma; adenocarcinoma |
c.2984C>T; p.P995L; |
lung | carcinoma; adenocarcinoma |
c.6633C>A; p.Y2211*; |
lung | carcinoma; adenocarcinoma |
c.2203C>T; p.R735*; |
lung | carcinoma; adenocarcinoma |
c.2057G>T; p.G686V; |
lung | carcinoma; adenocarcinoma |
c.5098G>T; p.D1700Y; |
lung | carcinoma; adenocarcinoma |
c.3711C>A; p.G1237G; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.5102C>T; p.A1701V; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1102A>T; p.T368S; |
breast | carcinoma |
c.687G>C; p.E229D; |
lung | carcinoma; large_cell_carcinoma |
c.5941C>T; p.R1981C; |
ovary | carcinoma; adenocarcinoma |
c.994C>A; p.R332S; |
liver | carcinoma |
c.5319C>T; p.G1773G; |
lung | carcinoma; small_cell_carcinoma |
c.4974C>A; p.L1658L; |
lung | carcinoma; small_cell_carcinoma |
c.1205G>T; p.C402F; |
lung | carcinoma; small_cell_carcinoma |
c.69delC; p.V24fs*10; |
autonomic_ganglia | neuroblastoma |
c.5065G>T; p.G1689C; |
autonomic_ganglia | neuroblastoma |
c.1752C>T; p.D584D; 19:15159004-15159004 |
ovary | carcinoma; serous_carcinoma |
c.1067T>C; p.V356A; |
ovary | carcinoma; serous_carcinoma |
c.5383C>A; p.L1795M; 19:15137882-15137882 |
ovary | carcinoma; serous_carcinoma |
c.5280C>G; p.I1760M; 19:15139142-15139142 |
ovary | carcinoma; serous_carcinoma |
c.5028C>T; p.F1676F; 19:15142228-15142228 |
ovary | carcinoma; serous_carcinoma |
c.4960C>T; p.L1654L; 19:15142296-15142296 |
ovary | carcinoma; serous_carcinoma |
c.2093C>T; p.P698L; |
lung | carcinoma; squamous_cell_carcinoma |
c.412C>A; p.P138T; |
lung | carcinoma; squamous_cell_carcinoma |
c.6865G>T; p.A2289S; |
lung | carcinoma; squamous_cell_carcinoma |
c.5304G>T; p.L1768L; |
ovary | carcinoma; serous_carcinoma |
c.5111T>G; p.M1704R; |
ovary | carcinoma; serous_carcinoma |
c.5089G>T; p.V1697L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4986C>G; p.V1662V; |
lung | carcinoma; squamous_cell_carcinoma |
c.6785C>G; p.S2262C; |
lung | carcinoma; squamous_cell_carcinoma |
c.984C>G; p.T328T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3074C>A; p.P1025H; |
lung | carcinoma; adenocarcinoma |
c.1721A>G; p.Y574C; |
lung | carcinoma; adenocarcinoma |
c.5841G>T; p.A1947A; |
lung | carcinoma; adenocarcinoma |
c.1220G>T; p.R407M; |
lung | carcinoma; adenocarcinoma |
c.1732C>G; p.R578G; |
lung | carcinoma; squamous_cell_carcinoma |
c.5856G>A; p.V1952V; |
lung | carcinoma; squamous_cell_carcinoma |
c.4822G>A; p.A1608T; |
breast | carcinoma |
c.5480A>T; p.Q1827L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1669G>T; p.G557C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3632C>T; p.S1211L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6221C>T; p.P2074L; 19:15133218-15133218 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5404_5405insG; p.A1802fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5026T>C; p.F1676L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.475G>A; p.V159M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1924G>A; p.D642N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5980C>A; p.H1994N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5839G>A; p.A1947T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.661G>A; p.D221N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3091C>T; p.R1031C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5717G>A; p.G1906D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1144G>A; p.G382S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2120G>A; p.G707D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3407C>T; p.S1136L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3197G>A; p.S1066N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2566+2T>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5102C>T; p.A1701V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2044C>A; p.L682I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.125delC; p.P42fs*194; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3425C>A; p.A1142D; |
large_intestine; rectum | NS |
c.5779G>A; p.A1927T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1490C>T; p.S497L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3648G>A; p.A1216A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6026G>A; p.R2009Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5633C>T; p.T1878I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5164A>G; p.M1722V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6065G>A; p.R2022H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5006G>A; p.R1669H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2653G>A; p.A885T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1852G>A; p.E618K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1399G>A; p.E467K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.731G>A; p.R244Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.660C>T; p.Y220Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4999C>T; p.R1667C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4926G>A; p.P1642P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1291G>A; p.D431N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5338A>G; p.M1780V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1662C>T; p.C554C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4426G>A; p.A1476T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5317G>A; p.G1773S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.605C>T; p.A202V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1594C>T; p.R532C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5723C>T; p.T1908M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5744G>A; p.R1915H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3087C>T; p.S1029S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5713G>C; p.D1905H; |
breast | carcinoma |
c.6076C>T; p.Q2026*; |
breast | carcinoma |
c.2659G>A; p.D887N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1207G>A; p.E403K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5386G>T; p.A1796S; |
urinary_tract; bladder | carcinoma |
c.5445C>T; p.D1815D; |
breast | carcinoma |
c.4563A>G; p.P1521P; |
breast | carcinoma |
c.5103G>A; p.A1701A; |
breast | carcinoma |
c.2536T>C; p.C846R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5404_5405insG; p.A1802fs*8; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.171G>T; p.Q57H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1541C>T; p.T514M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3433C>G; p.L1145V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2953C>T; p.R985C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6637G>A; p.A2213T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5644G>A; p.A1882T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1195G>A; p.A399T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6005A>G; p.D2002G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2671T>A; p.C891S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4560G>A; p.P1520P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.325C>T; p.P109S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6092G>A; p.R2031H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.165C>T; p.C55C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1109C>T; p.P370L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4636C>T; p.R1546C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901G>A; p.V301M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6029A>G; p.D2010G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.660C>T; p.Y220Y; |
breast | carcinoma |
c.5500C>T; p.R1834W; |
prostate | carcinoma; adenocarcinoma |
c.1785C>T; p.G595G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1690G>A; p.A564T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2905C>T; p.R969W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5683C>T; p.R1895C; |
prostate | carcinoma |
c.6884C>G; p.S2295C; |
skin | malignant_melanoma |
c.364C>T; p.P122S; |
skin | malignant_melanoma |
c.1528G>A; p.E510K; |
skin | malignant_melanoma |
c.4805C>T; p.P1602L; |
skin | malignant_melanoma |
c.5800G>A; p.A1934T; |
skin; neck | malignant_melanoma |
c.5799T>A; p.N1933K; |
skin; neck | malignant_melanoma |
c.676C>T; p.P226S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.6945C>G; p.P2315P; |
stomach | adenocarcinoma |