PCSK2 proprotein convertase subtilisin/kexin type 2

Canonical transcript: NM_002594

145 unique variant annotations were identified in 52 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
20-17207721-G-A c.-230G>A - 5-UTRSNV 1/12 - 1
20-17207721-G-T c.-230G>T - 5-UTRSNV 1/12 - 1
20-17207993-TTC-AAG c.43_45delinsAAG p.Phe15Lys Missense 1/12 - 1
20-17208002-T-G c.52T>G p.Cys18Gly Missense 1/12 - 1
20-17208075-GA-AC c.125_126delinsAC p.Gly42Asp Missense 1/12 - 1
20-17208089-C-A c.139C>A p.Arg47Ser Missense 1/12 - 1
20-17208104-G-A c.154G>A p.Glu52Lys Missense 1/12 - 1
20-17211633-A-G c.177+3506A>G - IntronicSNV - 1/11 3
20-17222735-G-A c.177+14608G>A - IntronicSNV - 1/11 3
20-17224938-A-T c.178-15947A>T - IntronicSNV - 1/11 2
20-17225515-A-G c.178-15370A>G - IntronicSNV - 1/11 1
20-17227669-C-T c.178-13216C>T - IntronicSNV - 1/11 1
20-17228744-A-G c.178-12141A>G - IntronicSNV - 1/11 1
20-17234158-T-A c.178-6727T>A - IntronicSNV - 1/11 1
20-17234158-T-C c.178-6727T>C - IntronicSNV - 1/11 1
20-17234158-T-G c.178-6727T>G - IntronicSNV - 1/11 1
20-17240001-C-T c.178-884C>T - IntronicSNV - 1/11 1
20-17240937-C-A c.230C>A p.Ala77Asp Missense 2/12 - 1
20-17240948-C-T c.241C>T p.Arg81Cys Missense 2/12 - 1
20-17240989-G-A c.282G>A p.Arg94Arg Synonymous 2/12 - 1
20-17242137-T-C c.282+1148T>C - IntronicSNV - 2/11 1
20-17247207-G-A c.282+6218G>A - IntronicSNV - 2/11 1
20-17248374-T-A c.282+7385T>A - IntronicSNV - 2/11 1
20-17248374-T-C c.282+7385T>C - IntronicSNV - 2/11 1
20-17252213-G-A c.282+11224G>A - IntronicSNV - 2/11 1
20-17252253-G-A c.282+11264G>A - IntronicSNV - 2/11 1
20-17252253-G-C c.282+11264G>C - IntronicSNV - 2/11 1
20-17252516-T-G c.282+11527T>G - IntronicSNV - 2/11 1
20-17256151-G-A c.282+15162G>A - IntronicSNV - 2/11 1
20-17256418-G-A c.282+15429G>A - IntronicSNV - 2/11 1
20-17256418-G-T c.282+15429G>T - IntronicSNV - 2/11 1
20-17261305-A-C c.282+20316A>C - IntronicSNV - 2/11 2
20-17262715-G-A c.282+21726G>A - IntronicSNV - 2/11 1
20-17264604-G-A c.282+23615G>A - IntronicSNV - 2/11 2
20-17279771-A-T c.282+38782A>T - IntronicSNV - 2/11 1
20-17281762-G-A c.282+40773G>A - IntronicSNV - 2/11 1
20-17292818-G-A c.283-46154G>A - IntronicSNV - 2/11 1
20-17292818-G-C c.283-46154G>C - IntronicSNV - 2/11 1
20-17292818-G-T c.283-46154G>T - IntronicSNV - 2/11 1
20-17295110-A-G c.283-43862A>G - IntronicSNV - 2/11 1
20-17297511-G-A c.283-41461G>A - IntronicSNV - 2/11 1
20-17304195-T-A c.283-34777T>A - IntronicSNV - 2/11 1
20-17304195-T-C c.283-34777T>C - IntronicSNV - 2/11 1
20-17310016-T-A c.283-28956T>A - IntronicSNV - 2/11 1
20-17311577-C-T c.283-27395C>T - IntronicSNV - 2/11 1
20-17312073-A-T c.283-26899A>T - IntronicSNV - 2/11 3
20-17315942-C-T c.283-23030C>T - IntronicSNV - 2/11 1
20-17316461-G-A c.283-22511G>A - IntronicSNV - 2/11 1
20-17317124-G-A c.283-21848G>A - IntronicSNV - 2/11 1
20-17319069-T-C c.283-19903T>C - IntronicSNV - 2/11 1
20-17320057-T-C c.283-18915T>C - IntronicSNV - 2/11 1
20-17320570-G-A c.283-18402G>A - IntronicSNV - 2/11 1
20-17324003-C-G c.283-14969C>G - IntronicSNV - 2/11 2
20-17324003-C-T c.283-14969C>T - IntronicSNV - 2/11 2
20-17326804-A-G c.283-12168A>G - IntronicSNV - 2/11 1
20-17326948-G-A c.283-12024G>A - IntronicSNV - 2/11 1
20-17327709-A-C c.283-11263A>C - IntronicSNV - 2/11 2
20-17327892-A-G c.283-11080A>G - IntronicSNV - 2/11 1
20-17329619-G-A c.283-9353G>A - IntronicSNV - 2/11 1
20-17329619-G-C c.283-9353G>C - IntronicSNV - 2/11 1
20-17329725-C-A c.283-9247C>A - IntronicSNV - 2/11 2
20-17329725-C-T c.283-9247C>T - IntronicSNV - 2/11 2
20-17331333-A-G c.283-7639A>G - IntronicSNV - 2/11 1
20-17331333-A-T c.283-7639A>T - IntronicSNV - 2/11 1
20-17335528-C-T c.283-3444C>T - IntronicSNV - 2/11 1
20-17338509-G-A c.283-463G>A - IntronicSNV - 2/11 1
20-17339056-G-A c.367G>A p.Asp123Asn Missense 3/12 - 1
20-17339545-A-T c.396+460A>T - IntronicSNV - 3/11 1
20-17341931-T-A c.505+646T>A - IntronicSNV - 4/11 1
20-17341931-T-C c.505+646T>C - IntronicSNV - 4/11 1
20-17351353-C-T c.543+1431C>T - IntronicSNV - 5/11 1
20-17351397-T-C c.543+1475T>C - IntronicSNV - 5/11 1
20-17354667-C-G c.543+4745C>G - IntronicSNV - 5/11 1
20-17354667-C-T c.543+4745C>T - IntronicSNV - 5/11 1
20-17356566-G-A c.543+6644G>A - IntronicSNV - 5/11 1
20-17357573-G-A c.543+7651G>A - IntronicSNV - 5/11 9
20-17359711-T-C c.543+9789T>C - IntronicSNV - 5/11 1
20-17361482-C-T c.543+11560C>T - IntronicSNV - 5/11 1
20-17367594-C-T c.543+17672C>T - IntronicSNV - 5/11 2
20-17368381-C-T c.543+18459C>T - IntronicSNV - 5/11 1
20-17368542-C-A c.543+18620C>A - IntronicSNV - 5/11 4
20-17368542-C-T c.543+18620C>T - IntronicSNV - 5/11 4
20-17368967-A-G c.543+19045A>G - IntronicSNV - 5/11 1
20-17374513-A-C c.544-15395A>C - IntronicSNV - 5/11 1
20-17374513-A-G c.544-15395A>G - IntronicSNV - 5/11 1
20-17377505-G-A c.544-12403G>A - IntronicSNV - 5/11 1
20-17377505-G-C c.544-12403G>C - IntronicSNV - 5/11 1
20-17377505-G-T c.544-12403G>T - IntronicSNV - 5/11 1
20-17377818-A-G c.544-12090A>G - IntronicSNV - 5/11 1
20-17377818-A-T c.544-12090A>T - IntronicSNV - 5/11 1
20-17382737-T-C c.544-7171T>C - IntronicSNV - 5/11 1
20-17384586-T-C c.544-5322T>C - IntronicSNV - 5/11 1
20-17389877-C-A c.544-31C>A - IntronicSNV - 5/11 1
20-17389877-C-T c.544-31C>T - IntronicSNV - 5/11 1
20-17389914-G-A c.550G>A p.Glu184Lys Missense 6/12 - 1
20-17398979-A-G c.620+8995A>G - IntronicSNV - 6/11 1
20-17408386-C-G c.621-1694C>G - IntronicSNV - 6/11 1
20-17408503-A-G c.621-1577A>G - IntronicSNV - 6/11 1
20-17408503-A-T c.621-1577A>T - IntronicSNV - 6/11 1
20-17410120-A-G c.661A>G p.Asn221Asp Missense 7/12 - 1
20-17415219-G-A c.710-2134G>A - IntronicSNV - 7/11 1
20-17415219-G-T c.710-2134G>T - IntronicSNV - 7/11 1
20-17415959-C-T c.710-1394C>T - IntronicSNV - 7/11 1
20-17416812-G-A c.710-541G>A - IntronicSNV - 7/11 1
20-17417013-A-G c.710-340A>G - IntronicSNV - 7/11 1
20-17417374-C-A c.731C>A p.Pro244Gln Missense 8/12 - 1
20-17417442-G-A c.799G>A p.Ala267Thr Missense 8/12 - 1
20-17417486-C-T c.843C>T p.Pro281Pro Synonymous 8/12 - 1
20-17422063-T-A c.885+4535T>A - IntronicSNV - 8/11 3
20-17422063-T-C c.885+4535T>C - IntronicSNV - 8/11 3
20-17426687-C-T c.886-7700C>T - IntronicSNV - 8/11 2
20-17433079-T-A c.886-1308T>A - IntronicSNV - 8/11 3
20-17433079-T-C c.886-1308T>C - IntronicSNV - 8/11 3
20-17433800-T-A c.886-587T>A - IntronicSNV - 8/11 1
20-17434286-G-C c.886-101G>C - IntronicSNV - 8/11 1
20-17434597-G-A c.1096G>A p.Gly366Ser Missense 9/12 - 1
20-17436473-T-G c.1102-520T>G - IntronicSNV - 9/11 2
20-17437045-C-T c.1154C>T p.Ala385Val Missense 10/12 - 1
20-17438040-G-C c.1202+947G>C - IntronicSNV - 10/11 1
20-17438040-G-T c.1202+947G>T - IntronicSNV - 10/11 1
20-17438213-T-C c.1202+1120T>C - IntronicSNV - 10/11 2
20-17444837-T-C c.1203-1134T>C - IntronicSNV - 10/11 1
20-17444862-C-T c.1203-1109C>T - IntronicSNV - 10/11 1
20-17445078-A-G c.1203-893A>G - IntronicSNV - 10/11 1
20-17445535-G-A c.1203-436G>A - IntronicSNV - 10/11 1
20-17446056-C-T c.1288C>T p.Arg430Trp Missense 11/12 - 2
20-17449713-A-G c.1430+3515A>G - IntronicSNV - 11/11 1
20-17449713-A-T c.1430+3515A>T - IntronicSNV - 11/11 1
20-17451220-A-G c.1430+5022A>G - IntronicSNV - 11/11 1
20-17451285-A-G c.1430+5087A>G - IntronicSNV - 11/11 1
20-17451801-T-G c.1430+5603T>G - IntronicSNV - 11/11 1
20-17453598-C-A c.1430+7400C>A - IntronicSNV - 11/11 2
20-17454302-G-A c.1431-7927G>A - IntronicSNV - 11/11 1
20-17455185-G-A c.1431-7044G>A - IntronicSNV - 11/11 1
20-17455276-G-A c.1431-6953G>A - IntronicSNV - 11/11 1
20-17455276-G-T c.1431-6953G>T - IntronicSNV - 11/11 1
20-17456955-G-A c.1431-5274G>A - IntronicSNV - 11/11 1
20-17456955-G-C c.1431-5274G>C - IntronicSNV - 11/11 1
20-17457654-G-A c.1431-4575G>A - IntronicSNV - 11/11 1
20-17459928-A-T c.1431-2301A>T - IntronicSNV - 11/11 1
20-17462150-C-T c.1431-79C>T - IntronicSNV - 11/11 1
20-17462371-A-G c.1573A>G p.Met525Val Missense 12/12 - 1
20-17462504-C-T c.1706C>T p.Thr569Ile Missense 12/12 - 1
20-17462582-A-T c.1784A>T p.Gln595Leu Missense 12/12 - 1
20-17465213-T-C c.*2498T>C - 3-UTRSNV 12/12 - 1