Entrez Gene

Basic Information
Gene ID	351
Name	APP
Synonymous	amyloid beta (A4) precursor protein;APP;amyloid beta (A4) precursor protein
Definition	alzheimer disease amyloid protein\|amyloid beta A4 protein\|beta-amyloid peptide\|beta-amyloid peptide(1-40)\|beta-amyloid peptide(1-42)\|cerebral vascular amyloid peptide\|peptidase nexin-II\|preA4\|protease nexin-II
Position	21q21.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.839_840insCAC; p.T280_E281insT; 21:26021865-26021866	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.1263G>T; p.K421N; 21:25975990-25975990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.68A>G; p.D23G; 21:26112136-26112136	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1794C>T; p.T598T; 21:25911856-25911856	liver	carcinoma	Substitution - coding silent
c.1794C>T; p.T598T; 21:25911856-25911856	liver	carcinoma	Substitution - coding silent
c.1990G>C; p.E664Q; 21:25897647-25897647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.901C>G; p.R301G; 21:26000147-26000147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1322C>A; p.S441Y; 21:25975206-25975206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1690G>C; p.E564Q; 21:25911960-25911960	breast	carcinoma	Substitution - Missense
c.1322C>A; p.S441Y; 21:25975206-25975206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1221C>T; p.S407S; 21:25982347-25982347	skin	malignant_melanoma	Substitution - coding silent
c.617C>T; p.S206L; 21:26051045-26051045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.547G>C; p.E183Q; 21:26051115-26051115	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1127A>G; p.D376G; 21:25982441-25982441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1069C>T; p.L357F; 21:25997381-25997381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1462C>T; p.R488C; 21:25955752-25955752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433G>A; p.E145K; 21:26053271-26053271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2002G>A; p.E668K; 21:25897635-25897635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1666G>A; p.E556K; 21:25954611-25954611	breast	carcinoma	Substitution - Missense
c.1317G>A; p.V439V; 21:25975211-25975211	large_intestine; caecum	adenoma	Substitution - coding silent
c.1666G>A; p.E556K; 21:25954611-25954611	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1106C>T; p.A369V; 21:25982462-25982462	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.552T>G; p.F184L; 21:26051110-26051110	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1106C>T; p.A369V; 21:25982462-25982462	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1130A>G; p.K377R; 21:25982438-25982438	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2124C>T; p.G708G; 21:25891809-25891809	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2124C>T; p.G708G; 21:25891809-25891809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2102C>T; p.A701V; 21:25891831-25891831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2185A>G; p.T729A; 21:25891748-25891748	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.E227K; 21:26022026-26022026	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1536C>T; p.F512F; 21:25955678-25955678	skin	malignant_melanoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536C>T; p.F512F; 21:25955678-25955678	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.624C>T; p.V208V; 21:26051038-26051038	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.472T>C; p.C158R; 21:26051190-26051190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1407C>T; p.R469R; 21:25975121-25975121	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2140A>G; p.T714A; 21:25891793-25891793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.83T>C; p.L28P; 21:26112121-26112121	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.83T>C; p.L28P; 21:26112121-26112121	large_intestine; rectum	NS	Substitution - Missense
c.1524C>G; p.T508T; 21:25955690-25955690	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2240G>C; p.R747P; 21:25881743-25881743	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.304C>A; p.R102S; 21:26089994-26089994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2271C>T; p.Y757Y; 21:25881712-25881712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1537G>A; p.E513K; 21:25955677-25955677	liver	carcinoma	Substitution - Missense
c.1495C>T; p.R499C; 21:25955719-25955719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1495C>T; p.R499C; 21:25955719-25955719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1537G>A; p.E513K; 21:25955677-25955677	liver	carcinoma	Substitution - Missense
c.340C>T; p.P114S; 21:26089958-26089958	skin	malignant_melanoma	Substitution - Missense
c.573A>C; p.E191D; 21:26051089-26051089	skin	malignant_melanoma	Substitution - Missense
c.766G>A; p.E256K; 21:26021939-26021939	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1450C>T; p.P484S; 21:25975078-25975078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>T; p.I586I; 21:25911892-25911892	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.469-2A>C; p.?; 21:26051195-26051195	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2265C>T; p.N755N; 21:25881718-25881718	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1173C>T; p.F391F; 21:25982395-25982395	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.518C>T; p.P173L; 21:26051144-26051144	skin	malignant_melanoma	Substitution - Missense
c.853G>C; p.E285Q; 21:26021852-26021852	breast	carcinoma	Substitution - Missense
c.1910-1G>T; p.?; 21:25905078-25905078	skin	malignant_melanoma	Unknown
c.204C>A; p.G68G; 21:26112000-26112000	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2127T>C; p.G709G; 21:25891806-25891806	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.V490M; 21:25955746-25955746	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.763G>T; p.E255*; 21:26021942-26021942	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1076G>A; p.R359Q; 21:25997374-25997374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571G>C; p.E191Q; 21:26051091-26051091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.450G>A; p.W150*; 21:26053254-26053254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.473G>A; p.C158Y; 21:26051189-26051189	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2138C>T; p.A713V; 21:25891795-25891795	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.806C>T; p.T269I; 21:26021899-26021899	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2138C>T; p.A713V; 21:25891795-25891795	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1432A>C; p.T478P; 21:25975096-25975096	breast	carcinoma	Substitution - Missense
c.1272T>G; p.P424P; 21:25975981-25975981	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.933G>A; p.V311V; 21:26000115-26000115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.203G>A; p.G68D; 21:26112001-26112001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.22C>A; p.L8I; 21:26170599-26170599	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2148C>T; p.I716I; 21:25891785-25891785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1467C>T; p.H489H; 21:25955747-25955747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1849G>A; p.D617N; 21:25911801-25911801	skin	malignant_melanoma	Substitution - Missense
c.1849G>A; p.D617N; 21:25911801-25911801	skin	malignant_melanoma	Substitution - Missense
c.1942C>A; p.R648R; 21:25905045-25905045	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2110G>A; p.G704R; 21:25891823-25891823	skin	malignant_melanoma	Substitution - Missense
c.1942C>A; p.R648R; 21:25905045-25905045	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2020G>T; p.E674*; 21:25897617-25897617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1750C>T; p.P584S; 21:25911900-25911900	skin	malignant_melanoma	Substitution - Missense
c.1570G>T; p.A524S; 21:25955644-25955644	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.432C>T; p.C144C; 21:26053272-26053272	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.432C>T; p.C144C; 21:26053272-26053272	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>A; p.R469H; 21:25975122-25975122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1406G>A; p.R469H; 21:25975122-25975122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.377C>T; p.A126V; 21:26053327-26053327	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2036C>A; p.S679*; 21:25897601-25897601	skin	malignant_melanoma	Substitution - Nonsense
c.390T>G; p.P130P; 21:26053314-26053314	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.742G>A; p.D248N; 21:26021963-26021963	skin	malignant_melanoma	Substitution - Missense
c.2288A>G; p.K763R; 21:25881695-25881695	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1306C>T; p.Q436*; 21:25975222-25975222	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1073C>T; p.A358V; 21:25997377-25997377	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.429T>G; p.V143V; 21:26053275-26053275	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2292C>A; p.F764L; 21:25881691-25881691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2292C>A; p.F764L; 21:25881691-25881691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2126G>C; p.G709A; 21:25891807-25891807	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.893G>A; p.G298E; 21:26000155-26000155	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1492G>A; p.V498I; 21:25955722-25955722	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1503A>G; p.E501E; 21:25955711-25955711	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503A>G; p.E501E; 21:25955711-25955711	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.702G>T; p.V234V; 21:26022003-26022003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473C>A; p.F491L; 21:25955741-25955741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1868C>T; p.S623F; 21:25911782-25911782	skin	malignant_melanoma	Substitution - Missense
c.1195G>C; p.E399Q; 21:25982373-25982373	breast	carcinoma	Substitution - Missense
c.1623G>A; p.M541I; 21:25954654-25954654	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1868C>A; p.S623Y; 21:25911782-25911782	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>A; p.E281K; 21:26021864-26021864	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2256G>T; p.M752I; 21:25881727-25881727	breast	carcinoma	Substitution - Missense
c.945G>C; p.K315N; 21:26000103-26000103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1123G>A; p.V375I; 21:25982445-25982445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.603G>A; p.A201A; 21:26051059-26051059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2180A>T; p.Q727L; 21:25891753-25891753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1475A>G; p.N492S; 21:25955739-25955739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.533A>G; p.K178R; 21:26051129-26051129	breast	carcinoma	Substitution - Missense
c.523_524GG>TT; p.G175>?; 21:26051138-26051139	lung	carcinoma; adenocarcinoma	Complex
c.355+1G>A; p.?; 21:26089942-26089942	skin	malignant_melanoma	Unknown
c.1797A>C; p.E599D; 21:25911853-25911853	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>A; p.P299Q; 21:26000152-26000152	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1435G>C; p.A479P; 21:25975093-25975093	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1720G>T; p.D574Y; 21:25911930-25911930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1323T>C; p.S441S; 21:25975205-25975205	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1053G>A; p.K351K; 21:25997397-25997397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.84G>T; p.L28L; 21:26112120-26112120	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1093C>T; p.P365S; 21:25982475-25982475	skin	malignant_melanoma	Substitution - Missense
c.999A>T; p.T333T; 21:26000049-26000049	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1883C>T; p.S628F; 21:25911767-25911767	skin	malignant_melanoma	Substitution - Missense
c.1795G>A; p.E599K; 21:25911855-25911855	skin	malignant_melanoma	Substitution - Missense
c.1810G>A; p.V604M; 21:25911840-25911840	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2257C>T; p.Q753*; 21:25881726-25881726	breast	carcinoma	Substitution - Nonsense
c.425A>G; p.D142G; 21:26053279-26053279	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.587T>C; p.V196A; 21:26051075-26051075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.425A>G; p.D142G; 21:26053279-26053279	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.T297M; 21:26000158-26000158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1713C>A; p.N571K; 21:25911937-25911937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1573C>T; p.Q525*; 21:25955641-25955641	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.866-1G>C; p.?; 21:26000183-26000183	skin	malignant_melanoma	Unknown
c.1573C>T; p.Q525*; 21:25955641-25955641	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1545G>A; p.V515V; 21:25955669-25955669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2037A>T; p.S679S; 21:25897600-25897600	liver	carcinoma	Substitution - coding silent
c.1785A>T; p.P595P; 21:25911865-25911865	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.948T>A; p.C316*; 21:26000100-26000100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2037A>T; p.S679S; 21:25897600-25897600	liver	carcinoma	Substitution - coding silent
c.1252C>T; p.R418C; 21:25976001-25976001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>G; p.Q436E; 21:25975222-25975222	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1906G>A; p.E636K; 21:25911744-25911744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.909G>A; p.M303I; 21:26000139-26000139	skin	malignant_melanoma	Substitution - Missense
c.1282A>G; p.K428E; 21:25975971-25975971	liver	carcinoma	Substitution - Missense
c.522C>T; p.C174C; 21:26051140-26051140	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.522C>T; p.C174C; 21:26051140-26051140	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1157A>G; p.N386S; 21:25982411-25982411	ovary	other; neoplasm	Substitution - Missense
c.2052T>A; p.H684Q; 21:25897585-25897585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.553G>A; p.V185M; 21:26051109-26051109	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.V185M; 21:26051109-26051109	large_intestine; colon	carcinoma	Substitution - Missense
c.983G>A; p.R328Q; 21:26000065-26000065	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1177A>G; p.K393E; 21:25982391-25982391	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.817_818insCCA; p.T280_E281insT; 21:26021887-26021888	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2054A>G; p.H685R; 21:25897583-25897583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.581A>G; p.D194G; 21:26051081-26051081	skin	malignant_melanoma	Substitution - Missense
c.698_700delAAG; p.E233delE; 21:26022005-26022007	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.440A>T; p.H147L; 21:26053264-26053264	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>T; p.P299L; 21:26000152-26000152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1954A>G; p.T652A; 21:25905033-25905033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850G>A; p.E284K; 21:26021855-26021855	skin	malignant_melanoma	Substitution - Missense
c.1962A>G; p.P654P; 21:25905025-25905025	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.901C>A; p.R301R; 21:26000147-26000147	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1074C>T; p.A358A; 21:25997376-25997376	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1587+6C>T; p.?; 21:25955621-25955621	pancreas	carcinoma	Unknown
c.466G>T; p.E156*; 21:26053238-26053238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.924C>G; p.Y308*; 21:26000124-26000124	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.674T>C; p.V225A; 21:26022031-26022031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.A154T; 21:26053244-26053244	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2239C>T; p.R747C; 21:25881744-25881744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]