APOE apolipoprotein E

Canonical transcript: NM_000041

168 unique variant annotations were identified in 365 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 40
19-45409167-C-T c.-24+69C>T - intron_variant - 1/3 40
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 5
19-45409579-C-T c.-23-280C>T - IntronicSNV - 1/3 5
19-45409595-G-C c.-23-264G>C - IntronicSNV - 1/3 1
19-45409595-G-T c.-23-264G>T - IntronicSNV - 1/3 1
19-45409833-T-C c.-23-26T>C - IntronicSNV - 1/3 1
19-45409850-C-T c.-32C>T - IntronicSNV 1/4 - 2
19-45409882-A-C c.1A>C p.Met1? Missense 2/4 - 1
19-45409912-A-G c.31A>G p.Thr11Ala Missense 2/4 - 1
19-45409918-CT-GC c.37_38delinsGC p.Leu13Ala Missense 2/4 - 1
19-45409921-G-A c.40G>A p.Ala14Thr Missense 2/4 - 1
19-45409922-C-A c.41C>A p.Ala14Glu Missense 2/4 - 1
19-45410002-G-A c.43+78G>A - IntronicSNV - 2/3 75
19-45410076-G-A c.43+152G>A - IntronicSNV - 2/3 1
19-45410273-G-A c.43+349G>A - IntronicSNV - 2/3 2
19-45410444-G-A c.43+520G>A - IntronicSNV - 2/3 25
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.Cys16Phe Missense 3/4 - 1
19-45411021-C-A c.48C>A p.Cys16* Nonsense 3/4 - 1
19-45411025-G-A c.52G>A p.Ala18Thr Missense 3/4 - 3
19-45411026-C-A c.53C>A p.Ala18Asp Missense 3/4 - 1
19-45411034-G-A c.61G>A p.Glu21Lys Missense 3/4 - 2
19-45411035-A-G c.62A>G p.Glu21Gly Missense 3/4 - 1
19-45411042-G-A c.69G>A p.Ala23Ala Synonymous 3/4 - 1
19-45411048-G-C c.75G>C p.Glu25Asp Missense 3/4 - 1
19-45411048-G-T c.75G>T p.Glu25Asp Missense 3/4 - 1
19-45411050-CA-AC c.77_78delinsAC p.Thr26Asn Missense 3/4 - 1
19-45411060-G-C c.87G>C p.Glu29Asp Missense 3/4 - 1
19-45411060-G-T c.87G>T p.Glu29Asp Missense 3/4 - 1
19-45411061-C-T c.88C>T p.Pro30Ser Missense 3/4 - 1
19-45411064-G-A c.91G>A p.Glu31Lys Missense 3/4 - 1
19-45411074-A-G c.101A>G p.Gln34Arg Missense 3/4 - 1
19-45411082-G-A c.109G>A p.Glu37Lys Missense 3/4 - 1
19-45411082-GAG-TGT c.109_111delinsTGT p.Glu37Cys Missense 3/4 - 1
19-45411086-G-C c.113G>C p.Trp38Ser Missense 3/4 - 1
19-45411086-G-T c.113G>T p.Trp38Leu Missense 3/4 - 1
19-45411100-C-T c.127C>T p.Arg43Cys Missense 3/4 - 4
19-45411107-A-T c.134A>T p.Glu45Val Missense 3/4 - 1
19-45411110-T-C c.137T>C p.Leu46Pro Missense 3/4 - 11
19-45411110-T-G c.137T>G p.Leu46Arg Missense 3/4 - 1
19-45411115-C-A c.142C>A p.Leu48Met Missense 3/4 - 1
19-45411118-G-C c.145G>C p.Gly49Arg Missense 3/4 - 1
19-45411120-T-A c.147T>A p.Gly49Gly Synonymous 3/4 - 1
19-45411120-T-C c.147T>C p.Gly49Gly Synonymous 3/4 - 1
19-45411120-T-G c.147T>G p.Gly49Gly Synonymous 3/4 - 1
19-45411121-CG-AC c.148_149delinsAC p.Arg50Thr Missense 3/4 - 1
19-45411121-C-T c.148C>T p.Arg50Cys Missense 3/4 - 1
19-45411122-G-A c.149G>A p.Arg50His Missense 3/4 - 1
19-45411136-C-A c.163C>A p.Leu55Met Missense 3/4 - 5
19-45411145-G-A c.172G>A p.Val58Met Missense 3/4 - 1
19-45411148-C-T c.175C>T p.Gln59* Nonsense 3/4 - 1
19-45411150-G-C c.177G>C p.Gln59His Missense 3/4 - 1
19-45411150-G-T c.177G>T p.Gln59His Missense 3/4 - 1
19-45411151-A-G c.178A>G p.Thr60Ala Missense 3/4 - 1
19-45411157-T-G c.184T>G p.Ser62Ala Missense 3/4 - 1
19-45411161-A-C c.188A>C p.Glu63Ala Missense 3/4 - 1
19-45411179-T-A c.206T>A p.Leu69Gln Missense 3/4 - 1
19-45411193-G-A c.220G>A p.Val74Ile Missense 3/4 - 1
19-45411204-A-C c.231A>C p.Glu77Asp Missense 3/4 - 1
19-45411204-A-T c.231A>T p.Glu77Asp Missense 3/4 - 1
19-45411205-C-G c.232C>G p.Leu78Val Missense 3/4 - 1
19-45411208-AG-TA c.235_236delinsTA p.Arg79* Nonsense 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-GCG-TGT c.238_240delinsTGT p.Ala80Cys Missense 4/4 - 1
19-45411792-C-G c.239C>G p.Ala80Gly Missense 4/4 - 1
19-45411815-G-A c.262G>A p.Glu88Lys Missense 4/4 - 1
19-45411844-G-A c.291G>A p.Glu97Glu Synonymous 4/4 - 1
19-45411857-C-A c.304C>A p.Pro102Thr Missense 4/4 - 1
19-45411857-C-T c.304C>T p.Pro102Ser Missense 4/4 - 1
19-45411858-C-A c.305C>A p.Pro102Gln Missense 4/4 - 1
19-45411858-C-G c.305C>G p.Pro102Arg Missense 4/4 - 4
19-45411860-GTG-ATC c.307_309delinsATC p.Val103Ile Missense 4/4 - 1
19-45411860-GTG-TGT c.307_309delinsTGT p.Val103Cys Missense 4/4 - 2
19-45411887-TCC-GAG c.334_336delinsGAG p.Ser112Glu Missense 4/4 - 1
19-45411887-T-G c.334T>G p.Ser112Ala Missense 4/4 - 3
19-45411902-G-A c.349G>A p.Ala117Thr Missense 4/4 - 2
19-45411914-CGG-GAC c.361_363delinsGAC p.Arg121Asp Missense 4/4 - 1
19-45411938-G-A c.385G>A p.Val129Met Missense 4/4 - 1
19-45411940-G-A c.387G>A p.Val129Val Synonymous 4/4 - 1
19-45411940-G-C c.387G>C p.Val129Val Synonymous 4/4 - 1
19-45411940-G-T c.387G>T p.Val129Val Synonymous 4/4 - 1
19-45411941-T-C c.388T>C p.Cys130Arg Missense 4/4 - 1435
19-45411947-C-A c.394C>A p.Arg132Ser Missense 4/4 - 2
19-45411963-G-A c.410G>A p.Arg137His Missense 4/4 - 1
19-45411969-A-T c.416A>T p.Glu139Val Missense 4/4 - 1
19-45411981-T-C c.428T>C p.Met143Thr Missense 4/4 - 1
19-45411987-G-A c.434G>A p.Gly145Asp Missense 4/4 - 3
19-45411987-G-C c.434G>C p.Gly145Ala Missense 4/4 - 1
19-45411991-G-A c.438G>A p.Gln146Gln Synonymous 4/4 - 1
19-45412002-A-G c.449A>G p.Glu150Gly Missense 4/4 - 1
19-45412008-G-A c.455G>A p.Arg152Gln Missense 4/4 - 1
19-45412013-C-A c.460C>A p.Arg154Ser Missense 4/4 - 3
19-45412029-T-G c.476T>G p.Leu159Arg Missense 4/4 - 1
19-45412033-GCAAGCTGCG-G c.480_488del p.Leu162_Lys164del InFrameDeletion 4/4 - 1
19-45412037-C-G c.484C>G p.Leu162Val Missense 4/4 - 2
19-45412040-C-T c.487C>T p.Arg163Cys Missense 4/4 - 20
19-45412041-G-A c.488G>A p.Arg163His Missense 4/4 - 1
19-45412041-G-C c.488G>C p.Arg163Pro Missense 4/4 - 2
19-45412043-A-C c.490A>C p.Lys164Gln Missense 4/4 - 3
19-45412043-A-G c.490A>G p.Lys164Glu Missense 4/4 - 1
19-45412047-G-C c.494G>C p.Arg165Pro Missense 4/4 - 2
19-45412053-CTCC-C c.500_502del p.Leu167del InFrameDeletion 4/4 - 12
19-45412056-G-C c.503G>C p.Arg168Pro Missense 4/4 - 1
19-45412070-CTG-TTT c.517_519delinsTTT p.Leu173Phe Missense 4/4 - 1
19-45412071-T-C c.518T>C p.Leu173Pro Missense 4/4 - 1
19-45412079-C-T c.526C>T p.Arg176Cys Missense 4/4 - 1366
19-45412080-G-C c.527G>C p.Arg176Pro Missense 4/4 - 2
19-45412081-C-A c.528C>A p.Arg176Arg Synonymous 4/4 - 1
19-45412081-C-G c.528C>G p.Arg176Arg Synonymous 4/4 - 1
19-45412081-C-T c.528C>T p.Arg176Arg Synonymous 4/4 - 1
19-45412107-G-A c.554G>A p.Arg185His Missense 4/4 - 1
19-45412118-G-A c.565G>A p.Glu189Lys Missense 4/4 - 1
19-45412124-GGC-TGA c.571_573delinsTGA p.Gly191* Nonsense 4/4 - 1
19-45412125-GC-AG c.572_573delinsAG p.Gly191Glu Missense 4/4 - 1
19-45412145-C-T c.592C>T p.Arg198Cys Missense 4/4 - 1
19-45412148-CTG-TTT c.595_597delinsTTT p.Leu199Phe Missense 4/4 - 1
19-45412167-A-G c.614A>G p.Gln205Arg Missense 4/4 - 1
19-45412170-G-A c.617G>A p.Gly206Asp Missense 4/4 - 1
19-45412170-G-C c.617G>C p.Gly206Ala Missense 4/4 - 4
19-45412170-G-T c.617G>T p.Gly206Val Missense 4/4 - 1
19-45412172-C-T c.619C>T p.Arg207Cys Missense 4/4 - 1
19-45412197-C-G c.644C>G p.Ser215Cys Missense 4/4 - 3
19-45412197-C-T c.644C>T p.Ser215Phe Missense 4/4 - 1
19-45412210-G-C c.657G>C p.Gln219His Missense 4/4 - 1
19-45412219-G-C c.666G>C p.Gln222His Missense 4/4 - 1
19-45412219-G-T c.666G>T p.Gln222His Missense 4/4 - 1
19-45412244-C-G c.691C>G p.Arg231Gly Missense 4/4 - 1
19-45412256-C-T c.703C>T p.Arg235Trp Missense 4/4 - 1
19-45412262-G-A c.709G>A p.Glu237Lys Missense 4/4 - 1
19-45412269-T-A c.716T>A p.Met239Lys Missense 4/4 - 2
19-45412270-G-A c.717G>A p.Met239Ile Missense 4/4 - 2
19-45412270-G-C c.717G>C p.Met239Ile Missense 4/4 - 2
19-45412270-G-T c.717G>T p.Met239Ile Missense 4/4 - 2
19-45412289-C-T c.736C>T p.Arg246Cys Missense 4/4 - 1
19-45412314-T-A c.761T>A p.Val254Glu Missense 4/4 - 4
19-45412317-C-T c.764C>T p.Ala255Val Missense 4/4 - 1
19-45412319-G-C c.766G>C p.Glu256Gln Missense 4/4 - 1
19-45412334-CT-GC c.781_782delinsGC p.Leu261Ala Missense 4/4 - 1
19-45412337-G-A c.784G>A p.Glu262Lys Missense 4/4 - 2
19-45412340-G-A c.787G>A p.Glu263Lys Missense 4/4 - 2
19-45412358-C-G c.805C>G p.Arg269Gly Missense 4/4 - 2
19-45412358-C-T c.805C>T p.Arg269Cys Missense 4/4 - 1
19-45412359-G-A c.806G>A p.Arg269His Missense 4/4 - 2
19-45412361-CT-GA c.808_809delinsGA p.Leu270Glu Missense 4/4 - 1
19-45412385-CG-AT c.832_833delinsAT p.Arg278Ile Missense 4/4 - 1
19-45412389-TC-AA c.836_837delinsAA p.Leu279Gln Missense 4/4 - 5
19-45412409-C-G c.856C>G p.Leu286Val Missense 4/4 - 2
19-45412410-T-C c.857T>C p.Leu286Pro Missense 4/4 - 1
19-45412413-T-A c.860T>A p.Val287Glu Missense 4/4 - 8
19-45412428-G-A c.875G>A p.Arg292His Missense 4/4 - 1
19-45412435-G-T c.882G>T p.Trp294Cys Missense 4/4 - 1
19-45412451-A-G c.898A>G p.Lys300Glu Missense 4/4 - 1
19-45412478-G-A c.925G>A p.Ala309Thr Missense 4/4 - 2
19-45412483-C-A c.930C>A p.Ala310Ala Synonymous 4/4 - 1
19-45412483-C-G c.930C>G p.Ala310Ala Synonymous 4/4 - 1
19-45412483-C-T c.930C>T p.Ala310Ala Synonymous 4/4 - 1
19-45412493-A-C c.940A>C p.Ser314Arg Missense 4/4 - 1
19-45412532-C-T c.*25C>T - 3-UTRSNV 4/4 - 1