APOE apolipoprotein E

Annotation transcript: NM_000041.4

295 unique variant annotations were identified in 628 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-45409113-C-T c.-24+15C>T - intron_variant - 1/3 2
19-45409167-C-G c.-24+69C>G - intron_variant - 1/3 54
19-45409167-C-T c.-24+69C>T - intron_variant - 1/3 54
19-45409180-G-A c.-24+82G>A - intron_variant - 1/3 1
19-45409283-C-A c.-24+185C>A - intron_variant - 1/3 3
19-45409283-C-T c.-24+185C>T - intron_variant - 1/3 3
19-45409526-G-A c.-23-333G>A - IntronicSNV - 1/3 1
19-45409543-A-G c.-23-316A>G - IntronicSNV - 1/3 1
19-45409565-G-C c.-23-294G>C - IntronicSNV - 1/3 1
19-45409579-C-G c.-23-280C>G - IntronicSNV - 1/3 7
19-45409579-C-T c.-23-280C>T - IntronicSNV - 1/3 7
19-45409595-G-C c.-23-264G>C - IntronicSNV - 1/3 1
19-45409595-G-T c.-23-264G>T - IntronicSNV - 1/3 1
19-45409090-C-T c.-32C>T - IntronicSNV 1/4 - 2
19-45409882-A-C c.1A>C p.M1? Missense 2/4 - 1
19-45409887-G-A c.6G>A p.K2= Synonymous 2/4 - 1
19-45409888-G-A c.7G>A p.V3I Missense 2/4 - 1
19-45409888-G-T c.7G>T p.V3F Missense 2/4 - 1
19-45409891-C-T c.10C>T p.L4= Synonymous 2/4 - 1
19-45409893-G-A c.12G>A p.L4= Synonymous 2/4 - 1
19-45409893-G-C c.12G>C p.L4= Synonymous 2/4 - 1
19-45409893-G-T c.12G>T p.L4= Synonymous 2/4 - 1
19-45409912-AC-GT c.31_32inv p.T11V Missense 2/4 - 1
19-45409912-A-G c.31A>G p.T11A Missense 2/4 - 2
19-45409912-A-T c.31A>T p.T11S Missense 2/4 - 1
19-45409915-TTC-AAG c.34_36delinsAAG p.F12K Missense 2/4 - 1
19-45409918-CT-GC c.37_38delinsGC p.L13A Missense 2/4 - 3
19-45409921-G-A c.40G>A p.A14T Missense 2/4 - 1
19-45409921-GCA-TGT c.40_42delinsTGT p.A14C Missense 2/4 - 2
19-45409922-C-A c.41C>A p.A14E Missense 2/4 - 3
19-45409923-A-AGCT c.43_43+1insCTG p.A14dup SpliceDonorInsertion - - 1
19-45409935-G-A c.43+11G>A - IntronicSNV - 2/3 1
19-45410002-G-A c.43+78G>A - IntronicSNV - 2/3 115
19-45410076-G-A c.43+152G>A - IntronicSNV - 2/3 1
19-45410273-G-A c.43+349G>A - IntronicSNV - 2/3 3
19-45410444-G-A c.43+520G>A - IntronicSNV - 2/3 33
19-45410548-A-G c.44-469A>G - IntronicSNV - 2/3 2
19-45410911-T-G c.44-106T>G - IntronicSNV - 2/3 5
19-45411020-G-T c.47G>T p.C16F Missense 3/4 - 1
19-45411021-C-A c.48C>A p.C16* Nonsense 3/4 - 1
19-45411025-G-A c.52G>A p.A18T Missense 3/4 - 6
19-45411025-G-C c.52G>C p.A18P Missense 3/4 - 1
19-45411025-GC-TG c.52_53delinsTG p.A18C Missense 3/4 - 1
19-45411025-GC-TT c.52_53delinsTT p.A18F Missense 3/4 - 1
19-45411026-C-A c.53C>A p.A18D Missense 3/4 - 4
19-45411034-G-A c.61G>A p.E21K Missense 3/4 - 2
19-45411034-G-T c.61G>T p.E21* Nonsense 3/4 - 1
19-45411035-A-G c.62A>G p.E21G Missense 3/4 - 1
19-45411040-GCG-TGT c.67_69delinsTGT p.A23C Missense 3/4 - 1
19-45411041-C-A c.68C>A p.A23E Missense 3/4 - 1
19-45411041-CG-AC c.68_69delinsAC p.A23D Missense 3/4 - 1
19-45411041-C-T c.68C>T p.A23V Missense 3/4 - 2
19-45411042-G-A c.69G>A p.A23= Synonymous 3/4 - 2
19-45411048-G-C c.75G>C p.E25D Missense 3/4 - 1
19-45411048-G-T c.75G>T p.E25D Missense 3/4 - 1
19-45411050-CA-AC c.77_78delinsAC p.T26N Missense 3/4 - 2
19-45411052-G-C c.79G>C p.E27Q Missense 3/4 - 1
19-45411057-G-A c.84G>A p.P28= Synonymous 3/4 - 1
19-45411057-G-C c.84G>C p.P28= Synonymous 3/4 - 1
19-45411057-G-T c.84G>T p.P28= Synonymous 3/4 - 1
19-45411060-G-C c.87G>C p.E29D Missense 3/4 - 1
19-45411060-G-T c.87G>T p.E29D Missense 3/4 - 1
19-45411061-C-T c.88C>T p.P30S Missense 3/4 - 1
19-45411064-G-A c.91G>A p.E31K Missense 3/4 - 3
19-45411082-G-A c.109G>A p.E37K Missense 3/4 - 1
19-45411082-GAG-TGT c.109_111delinsTGT p.E37C Missense 3/4 - 1
19-45411086-G-C c.113G>C p.W38S Missense 3/4 - 1
19-45411086-G-T c.113G>T p.W38L Missense 3/4 - 1
19-45411091-AG-GA c.118_119delinsGA p.S40D Missense 3/4 - 1
19-45411091-AG-GC c.118_119delinsGC p.S40A Missense 3/4 - 1
19-45411100-C-T c.127C>T p.R43C Missense 3/4 - 12
19-45411107-A-T c.134A>T p.E45V Missense 3/4 - 1
19-45411110-T-C c.137T>C p.L46P Missense 3/4 - 17
19-45411110-T-G c.137T>G p.L46R Missense 3/4 - 1
19-45411110-TG-T c.139del p.A47Hfs*32 Frameshift 3/4 - 1
19-45411115-C-A c.142C>A p.L48M Missense 3/4 - 1
19-45411115-C-T c.142C>T p.L48= Synonymous 3/4 - 1
19-45411117-G-A c.144G>A p.L48= Synonymous 3/4 - 1
19-45411117-G-C c.144G>C p.L48= Synonymous 3/4 - 1
19-45411117-G-T c.144G>T p.L48= Synonymous 3/4 - 1
19-45411118-G-C c.145G>C p.G49R Missense 3/4 - 1
19-45411120-T-A c.147T>A p.G49= Synonymous 3/4 - 1
19-45411120-T-C c.147T>C p.G49= Synonymous 3/4 - 1
19-45411120-T-G c.147T>G p.G49= Synonymous 3/4 - 1
19-45411121-CG-AC c.148_149delinsAC p.R50T Missense 3/4 - 1
19-45411121-C-T c.148C>T p.R50C Missense 3/4 - 1
19-45411122-G-A c.149G>A p.R50H Missense 3/4 - 6
19-45411122-G-C c.149G>C p.R50P Missense 3/4 - 1
19-45411122-G-T c.149G>T p.R50L Missense 3/4 - 1
19-45411136-C-A c.163C>A p.L55M Missense 3/4 - 6
19-45411145-G-A c.172G>A p.V58M Missense 3/4 - 1
19-45411145-G-C c.172G>C p.V58L Missense 3/4 - 1
19-45411145-G-T c.172G>T p.V58L Missense 3/4 - 1
19-45411150-G-C c.177G>C p.Q59H Missense 3/4 - 1
19-45411150-G-T c.177G>T p.Q59H Missense 3/4 - 1
19-45411151-A-G c.178A>G p.T60A Missense 3/4 - 1
19-45411152-C-A c.179C>A p.T60K Missense 3/4 - 1
19-45411157-T-G c.184T>G p.S62A Missense 3/4 - 1
19-45411161-A-C c.188A>C p.E63A Missense 3/4 - 1
19-45411164-A-T c.191A>T p.Q64L Missense 3/4 - 1
19-45411165-G-A c.192G>A p.Q64= Synonymous 3/4 - 1
19-45411165-G-C c.192G>C p.Q64H Missense 3/4 - 1
19-45411172-GAG-TGT c.199_201delinsTGT p.E67C Missense 3/4 - 1
19-45411175-GAG-TTT c.202_204delinsTTT p.E68F Missense 3/4 - 1
19-45411179-T-A c.206T>A p.L69Q Missense 3/4 - 1
19-45411193-G-A c.220G>A p.V74I Missense 3/4 - 1
19-45411204-A-C c.231A>C p.E77D Missense 3/4 - 1
19-45411204-A-T c.231A>T p.E77D Missense 3/4 - 1
19-45411205-C-G c.232C>G p.L78V Missense 3/4 - 1
19-45411209-G-C c.236G>C p.R79T Missense 3/4 - 1
19-45411259-T-C c.236+50T>C - IntronicSNV - 3/3 1
19-45411677-C-G c.237-113C>G - IntronicSNV - 3/3 1
19-45411677-C-T c.237-113C>T - IntronicSNV - 3/3 1
19-45411791-G-C c.238G>C p.A80P Missense 4/4 - 1
19-45411791-GCG-TGT c.238_240delinsTGT p.A80C Missense 4/4 - 1
19-45411791-GCG-TTT c.238_240delinsTTT p.A80F Missense 4/4 - 1
19-45411792-C-A c.239C>A p.A80E Missense 4/4 - 1
19-45411792-C-G c.239C>G p.A80G Missense 4/4 - 2
19-45411794-C-T c.241C>T p.L81= Synonymous 4/4 - 1
19-45411800-GA-TG c.247_248delinsTG p.D83C Missense 4/4 - 2
19-45411802-C-T c.249C>T p.D83= Synonymous 4/4 - 1
19-45411824-G-A c.271G>A p.A91T Missense 4/4 - 1
19-45411826-C-A c.273C>A p.A91= Synonymous 4/4 - 1
19-45411826-C-G c.273C>G p.A91= Synonymous 4/4 - 1
19-45411826-C-T c.273C>T p.A91= Synonymous 4/4 - 1
19-45411844-G-A c.291G>A p.E97= Synonymous 4/4 - 1
19-45411851-CT-AA c.298_299delinsAA p.L100K Missense 4/4 - 1
19-45411852-T-C c.299T>C p.L100P Missense 4/4 - 1
19-45411857-C-A c.304C>A p.P102T Missense 4/4 - 1
19-45411857-C-G c.304C>G p.P102A Missense 4/4 - 1
19-45411857-C-T c.304C>T p.P102S Missense 4/4 - 1
19-45411858-C-A c.305C>A p.P102Q Missense 4/4 - 2
19-45411858-C-G c.305C>G p.P102R Missense 4/4 - 6
19-45411858-C-T c.305C>T p.P102L Missense 4/4 - 4
19-45411860-GTG-ATC c.307_309delinsATC p.V103I Missense 4/4 - 1
19-45411860-GTG-TGT c.307_309delinsTGT p.V103C Missense 4/4 - 2
19-45411870-A-C c.317A>C p.E106A Missense 4/4 - 1
19-45411874-G-A c.321G>A p.T107= Synonymous 4/4 - 1
19-45411878-G-C c.325G>C p.A109P Missense 4/4 - 1
19-45411878-G-T c.325G>T p.A109S Missense 4/4 - 1
19-45411887-T-C c.334T>C p.S112P Missense 4/4 - 1
19-45411887-TCC-GAG c.334_336delinsGAG p.S112E Missense 4/4 - 1
19-45411887-T-G c.334T>G p.S112A Missense 4/4 - 2
19-45411888-C-T c.335C>T p.S112F Missense 4/4 - 1
19-45411891-A-AG c.340dup p.E114Gfs*51 Frameshift 4/4 - 1
19-45411893-G-A c.340G>A p.E114K Missense 4/4 - 1
19-45411902-G-A c.349G>A p.A117T Missense 4/4 - 3
19-45411906-C-G c.353C>G p.A118G Missense 4/4 - 2
19-45411914-CGG-GAC c.361_363delinsGAC p.R121D Missense 4/4 - 1
19-45411914-C-T c.361C>T p.R121W Missense 4/4 - 1
19-45411917-C-G c.364C>G p.L122V Missense 4/4 - 1
19-45411938-G-A c.385G>A p.V129M Missense 4/4 - 1
19-45411940-G-A c.387G>A p.V129= Synonymous 4/4 - 1
19-45411940-G-C c.387G>C p.V129= Synonymous 4/4 - 1
19-45411940-G-T c.387G>T p.V129= Synonymous 4/4 - 1
19-45411941-T-C c.388T>C p.C130R Missense 4/4 - 2116
19-45411947-C-A c.394C>A p.R132S Missense 4/4 - 2
19-45411947-C-T c.394C>T p.R132C Missense 4/4 - 2
19-45411948-G-A c.395G>A p.R132H Missense 4/4 - 1
19-45411962-C-T c.409C>T p.R137C Missense 4/4 - 1
19-45411963-G-A c.410G>A p.R137H Missense 4/4 - 2
19-45411966-G-T c.413G>T p.G138V Missense 4/4 - 1
19-45411969-A-T c.416A>T p.E139V Missense 4/4 - 1
19-45411981-T-C c.428T>C p.M143T Missense 4/4 - 1
19-45411983-C-T c.430C>T p.L144F Missense 4/4 - 1
19-45411984-TCGGCCAGAGCACCGAGGAGCTGCGGGTG-T c.434_461del p.G145Afs*97 Frameshift 4/4 - 1
19-45411987-G-A c.434G>A p.G145D Missense 4/4 - 7
19-45411987-G-C c.434G>C p.G145A Missense 4/4 - 1
19-45411991-G-A c.438G>A p.Q146= Synonymous 4/4 - 1
19-45411995-AC-TG c.442_443delinsTG p.T148C Missense 4/4 - 1
19-45412002-A-G c.449A>G p.E150G Missense 4/4 - 1
19-45412008-G-A c.455G>A p.R152Q Missense 4/4 - 1
19-45412013-C-A c.460C>A p.R154S Missense 4/4 - 5
19-45412013-C-T c.460C>T p.R154C Missense 4/4 - 1
19-45412014-G-A c.461G>A p.R154H Missense 4/4 - 1
19-45412016-C-T c.463C>T p.L155F Missense 4/4 - 1
19-45412017-T-C c.464T>C p.L155P Missense 4/4 - 1
19-45412022-T-A c.469T>A p.S157T Missense 4/4 - 1
19-45412025-C-T c.472C>T p.H158Y Missense 4/4 - 1
19-45412028-C-T c.475C>T p.L159= Synonymous 4/4 - 1
19-45412029-T-G c.476T>G p.L159R Missense 4/4 - 1
19-45412027-CCTGCGCAAG-C c.480_488del p.L162_K164del InFrameDeletion 4/4 - 3
19-45412037-C-G c.484C>G p.L162V Missense 4/4 - 5
19-45412040-CGT-TGA c.487_489delinsTGA p.R163* Nonsense 4/4 - 1
19-45412040-C-T c.487C>T p.R163C Missense 4/4 - 23
19-45412041-G-A c.488G>A p.R163H Missense 4/4 - 2
19-45412041-G-C c.488G>C p.R163P Missense 4/4 - 5
19-45412043-A-C c.490A>C p.K164Q Missense 4/4 - 3
19-45412043-A-G c.490A>G p.K164E Missense 4/4 - 1
19-45412047-G-C c.494G>C p.R165P Missense 4/4 - 3
19-45412050-T-C c.497T>C p.L166P Missense 4/4 - 6
19-45412048-GCTC-G c.500_502del p.L167del InFrameDeletion 4/4 - 32
19-45412052-C-CTTGA c.500_501insTGAT p.R168Dfs*6 Frameshift 4/4 - 1
19-45412055-C-G c.502C>G p.R168G Missense 4/4 - 1
19-45412055-C-T c.502C>T p.R168C Missense 4/4 - 3
19-45412056-G-C c.503G>C p.R168P Missense 4/4 - 2
19-45412062-C-A c.509C>A p.A170D Missense 4/4 - 1
19-45412064-G-A c.511G>A p.D171N Missense 4/4 - 1
19-45412070-C-T c.517C>T p.L173= Synonymous 4/4 - 1
19-45412070-CTG-TTT c.517_519delinsTTT p.L173F Missense 4/4 - 1
19-45412071-T-C c.518T>C p.L173P Missense 4/4 - 7
19-45412071-T-G c.518T>G p.L173R Missense 4/4 - 1
19-45412072-GCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGC-G c.521_574del p.Q174_G191del InFrameDeletion 4/4 - 1
19-45412079-C-A c.526C>A p.R176S Missense 4/4 - 1
19-45412079-C-T c.526C>T p.R176C Missense 4/4 - 1942
19-45412080-G-C c.527G>C p.R176P Missense 4/4 - 4
19-45412081-C-A c.528C>A p.R176= Synonymous 4/4 - 1
19-45412081-C-G c.528C>G p.R176= Synonymous 4/4 - 1
19-45412081-C-T c.528C>T p.R176= Synonymous 4/4 - 1
19-45412085-G-A c.532G>A p.A178T Missense 4/4 - 1
19-45412089-T-C c.536T>C p.V179A Missense 4/4 - 1
19-45412101-G-T c.548G>T p.G183V Missense 4/4 - 2
19-45412104-C-A c.551C>A p.A184D Missense 4/4 - 1
19-45412107-G-A c.554G>A p.R185H Missense 4/4 - 1
19-45412108-C-G c.555C>G p.R185= Synonymous 4/4 - 1
19-45412118-G-A c.565G>A p.E189K Missense 4/4 - 1
19-45412124-GGC-TGA c.571_573delinsTGA p.G191* Nonsense 4/4 - 1
19-45412125-GC-AG c.572_573delinsAG p.G191E Missense 4/4 - 1
19-45412129-C-CATTG c.577_578insTTGA p.S193Ifs*167 Frameshift 4/4 - 1
19-45412142-G-C c.589G>C p.E197Q Missense 4/4 - 1
19-45412145-C-T c.592C>T p.R198C Missense 4/4 - 1
19-45412148-CTG-TTT c.595_597delinsTTT p.L199F Missense 4/4 - 1
19-45412149-T-C c.596T>C p.L199P Missense 4/4 - 1
19-45412157-C-T c.604C>T p.L202= Synonymous 4/4 - 1
19-45412167-A-G c.614A>G p.Q205R Missense 4/4 - 1
19-45412170-G-A c.617G>A p.G206D Missense 4/4 - 2
19-45412170-G-C c.617G>C p.G206A Missense 4/4 - 4
19-45412170-G-T c.617G>T p.G206V Missense 4/4 - 1
19-45412172-C-T c.619C>T p.R207C Missense 4/4 - 1
19-45412191-T-A c.638T>A p.V213E Missense 4/4 - 1
19-45412193-G-C c.640G>C p.G214R Missense 4/4 - 2
19-45412197-C-G c.644C>G p.S215C Missense 4/4 - 4
19-45412197-C-T c.644C>T p.S215F Missense 4/4 - 1
19-45412204-C-G c.651C>G p.A217= Synonymous 4/4 - 1
19-45412205-G-T c.652G>T p.G218C Missense 4/4 - 1
19-45412210-G-C c.657G>C p.Q219H Missense 4/4 - 1
19-45412219-G-C c.666G>C p.Q222H Missense 4/4 - 2
19-45412219-G-T c.666G>T p.Q222H Missense 4/4 - 2
19-45412223-C-T c.670C>T p.R224W Missense 4/4 - 1
19-45412234-C-A c.681C>A p.A227= Synonymous 4/4 - 1
19-45412234-C-G c.681C>G p.A227= Synonymous 4/4 - 1
19-45412234-C-T c.681C>T p.A227= Synonymous 4/4 - 1
19-45412244-C-G c.691C>G p.R231G Missense 4/4 - 1
19-45412256-C-T c.703C>T p.R235W Missense 4/4 - 1
19-45412262-G-A c.709G>A p.E237K Missense 4/4 - 1
19-45412267-G-A c.714G>A p.E238= Synonymous 4/4 - 1
19-45412269-T-A c.716T>A p.M239K Missense 4/4 - 2
19-45412270-G-A c.717G>A p.M239I Missense 4/4 - 5
19-45412270-G-C c.717G>C p.M239I Missense 4/4 - 4
19-45412270-G-T c.717G>T p.M239I Missense 4/4 - 4
19-45412274-AG-CC c.721_722delinsCC p.S241P Missense 4/4 - 2
19-45412284-GC-AA c.731_732delinsAA p.R244Q Missense 4/4 - 1
19-45412289-C-T c.736C>T p.R246C Missense 4/4 - 2
19-45412295-G-T c.742G>T p.D248Y Missense 4/4 - 1
19-45412298-G-A c.745G>A p.E249K Missense 4/4 - 1
19-45412299-A-G c.746A>G p.E249G Missense 4/4 - 1
19-45412307-G-A c.754G>A p.E252K Missense 4/4 - 1
19-45412310-C-T c.757C>T p.Q253* Nonsense 4/4 - 1
19-45412313-G-C c.760G>C p.V254L Missense 4/4 - 1
19-45412313-G-T c.760G>T p.V254L Missense 4/4 - 1
19-45412313-GT-AC c.760_761inv p.V254T Missense 4/4 - 1
19-45412314-T-A c.761T>A p.V254E Missense 4/4 - 9
19-45412317-C-T c.764C>T p.A255V Missense 4/4 - 1
19-45412319-G-C c.766G>C p.E256Q Missense 4/4 - 1
19-45412326-GC-AA c.773_774delinsAA p.R258Q Missense 4/4 - 1
19-45412331-AA-GT c.778_779delinsGT p.K260V Missense 4/4 - 1
19-45412334-CT-GC c.781_782delinsGC p.L261A Missense 4/4 - 1
19-45412337-G-A c.784G>A p.E262K Missense 4/4 - 7
19-45412340-G-A c.787G>A p.E263K Missense 4/4 - 7
19-45412356-T-C c.803T>C p.I268T Missense 4/4 - 1
19-45412358-C-G c.805C>G p.R269G Missense 4/4 - 7
19-45412359-G-A c.806G>A p.R269H Missense 4/4 - 3
19-45412361-CT-GA c.808_809delinsGA p.L270E Missense 4/4 - 1
19-45412363-G-A c.810G>A p.L270= Synonymous 4/4 - 1
19-45412373-G-T c.820G>T p.A274S Missense 4/4 - 1
19-45412385-CG-AT c.832_833delinsAT p.R278I Missense 4/4 - 4
19-45412389-TC-AA c.836_837delinsAA p.L279Q Missense 4/4 - 6
19-45412390-CAAG-C c.839_841del p.K280del InFrameDeletion 4/4 - 1
19-45412409-C-G c.856C>G p.L286V Missense 4/4 - 9
19-45412410-T-C c.857T>C p.L286P Missense 4/4 - 1
19-45412413-T-A c.860T>A p.V287E Missense 4/4 - 12
19-45412428-G-A c.875G>A p.R292H Missense 4/4 - 1
19-45412435-G-T c.882G>T p.W294C Missense 4/4 - 1
19-45412451-A-G c.898A>G p.K300E Missense 4/4 - 1
19-45412454-GTG-ATC c.901_903delinsATC p.V301I Missense 4/4 - 1
19-45412476-GCGCCGCC-G c.925_931del p.A309Lfs*? Frameshift 4/4 - 1
19-45412478-G-A c.925G>A p.A309T Missense 4/4 - 2
19-45412483-C-A c.930C>A p.A310= Synonymous 4/4 - 1
19-45412483-C-G c.930C>G p.A310= Synonymous 4/4 - 1
19-45412483-C-T c.930C>T p.A310= Synonymous 4/4 - 1
19-45412493-A-C c.940A>C p.S314R Missense 4/4 - 1
19-45412495-C-A c.942C>A p.S314R Missense 4/4 - 1
19-45412501-T-A c.948T>A p.N316K Missense 4/4 - 1
19-45412501-T-G c.948T>G p.N316K Missense 4/4 - 1
19-45412532-C-T c.*25C>T - 3-UTRSNV 4/4 - 2