PCSK7 proprotein convertase subtilisin/kexin type 7

Canonical transcript: NM_004716

119 unique variant annotations were identified in 119 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-117076726-T-A c.2345A>T p.Glu782Val Missense 17/17 - 1
11-117076816-AG-GC c.2254_2255delinsGC p.Leu752Ala Missense 17/17 - 1
11-117076843-G-T c.2228C>A p.Thr743Asn Missense 17/17 - 1
11-117076897-AG-GC c.2173_2174delinsGC p.Leu725Ala Missense 17/17 - 1
11-117076915-T-G c.2156A>C p.Glu719Ala Missense 17/17 - 1
11-117076921-C-G c.2150G>C p.Gly717Ala Missense 17/17 - 1
11-117076924-T-G c.2147A>C p.Glu716Ala Missense 17/17 - 1
11-117076930-TT-GC c.2140_2141delinsGC p.Lys714Ala Missense 17/17 - 1
11-117076960-CA-GC c.2110_2111delinsGC p.Cys704Ala Missense 17/17 - 1
11-117076966-CC-CT c.2104delinsA p.Gly702Arg Missense 17/17 - 1
11-117076975-CA-GC c.2095_2096delinsGC p.Cys699Ala Missense 17/17 - 2
11-117077045-C-T c.2026G>A p.Val676Ile Missense 17/17 - 1
11-117079626-G-C c.1678C>G p.Arg560Gly Missense 13/17 - 1
11-117080628-C-T c.1535-859G>A - IntronicSNV - 12/16 1
11-117080640-C-G c.1535-871G>C - IntronicSNV - 12/16 2
11-117081500-A-C c.1535-1731T>G - IntronicSNV - 12/16 1
11-117082691-G-T c.1535-2922C>A - IntronicSNV - 12/16 1
11-117082865-C-A c.1535-3096G>T - IntronicSNV - 12/16 1
11-117083004-T-G c.1535-3235A>C - IntronicSNV - 12/16 1
11-117083373-T-C c.1535-3604A>G - IntronicSNV - 12/16 2
11-117083831-A-G c.1535-4062T>C - IntronicSNV - 12/16 1
11-117083831-A-T c.1535-4062T>A - IntronicSNV - 12/16 1
11-117084040-G-A c.1535-4271C>T - IntronicSNV - 12/16 1
11-117084091-C-T c.1535-4322G>A - IntronicSNV - 12/16 1
11-117085261-C-G c.1534+3921G>C - IntronicSNV - 12/16 1
11-117085261-C-T c.1534+3921G>A - IntronicSNV - 12/16 1
11-117085270-A-C c.1534+3912T>G - IntronicSNV - 12/16 2
11-117085305-G-A c.1534+3877C>T - IntronicSNV - 12/16 1
11-117087118-G-C c.1534+2064C>G - IntronicSNV - 12/16 1
11-117087792-A-C c.1534+1390T>G - IntronicSNV - 12/16 1
11-117087792-A-T c.1534+1390T>A - IntronicSNV - 12/16 1
11-117088082-C-T c.1534+1100G>A - IntronicSNV - 12/16 1
11-117088362-A-G c.1534+820T>C - IntronicSNV - 12/16 2
11-117088994-A-C c.1534+188T>G - IntronicSNV - 12/16 3
11-117088994-A-G c.1534+188T>C - IntronicSNV - 12/16 3
11-117088994-A-T c.1534+188T>A - IntronicSNV - 12/16 3
11-117089006-G-C c.1534+176C>G - IntronicSNV - 12/16 1
11-117089205-C-T c.1511G>A p.Arg504His Missense 12/17 - 9
11-117089242-C-G c.1474G>C p.Val492Leu Missense 12/17 - 1
11-117089242-C-T c.1474G>A p.Val492Met Missense 12/17 - 1
11-117089247-CT-GC c.1468_1469delinsGC p.Ser490Ala Missense 12/17 - 1
11-117090312-T-C c.1318A>G p.Thr440Ala Missense 10/17 - 1
11-117090377-AA-GC c.1252_1253delinsGC p.Leu418Ala Missense 10/17 - 1
11-117090446-C-G c.1184G>C p.Gly395Ala Missense 10/17 - 1
11-117090545-T-C c.1156-71A>G - IntronicSNV - 9/16 1
11-117090558-C-T c.1156-84G>A - IntronicSNV - 9/16 2
11-117091609-G-A c.1156-1135C>T - IntronicSNV - 9/16 18
11-117091609-G-C c.1156-1135C>G - IntronicSNV - 9/16 18
11-117091821-G-A c.1156-1347C>T - IntronicSNV - 9/16 1
11-117093486-C-T c.1155+438G>A - IntronicSNV - 9/16 1
11-117093560-A-G c.1155+364T>C - IntronicSNV - 9/16 1
11-117093764-A-C c.1155+160T>G - IntronicSNV - 9/16 1
11-117093806-G-A c.1155+118C>T - IntronicSNV - 9/16 1
11-117093923-C-A c.1155+1G>T - IntronicSNV - 9/16 1
11-117093960-G-A c.1119C>T p.Val373Val Synonymous 9/17 - 1
11-117093960-G-C c.1119C>G p.Val373Val Synonymous 9/17 - 1
11-117093960-G-T c.1119C>A p.Val373Val Synonymous 9/17 - 1
11-117094413-T-C c.1054+381A>G - IntronicSNV - 8/16 1
11-117094885-GCT-TGA c.961_963delinsTCA p.Ser321Ser Nonsense 8/17 - 1
11-117095283-C-T c.915+134G>A - IntronicSNV - 7/16 3
11-117095361-C-T c.915+56G>A - IntronicSNV - 7/16 4
11-117095434-G-A c.898C>T p.Pro300Ser Missense 7/17 - 7
11-117095472-C-A c.861-1G>T - IntronicSNV - 6/16 1
11-117096652-G-A c.855C>T p.Ser285Ser Synonymous 6/17 - 4
11-117096685-GAA-GAG c.820delinsC p.Phe274Leu Missense 6/17 - 1
11-117096730-CC-AT c.776_777delinsAT p.Arg259His Missense 6/17 - 1
11-117096730-CCG-TGT c.775_777delinsACA p.Arg259Thr Missense 6/17 - 1
11-117096731-C-A c.776G>T p.Arg259Leu Missense 6/17 - 1
11-117097950-CG-GC c.691_692delinsGC p.Arg231Ala Missense 5/17 - 1
11-117097952-C-T c.690G>A p.Thr230Thr Synonymous 5/17 - 6
11-117097974-T-A c.668A>T p.Glu223Val Missense 5/17 - 1
11-117097984-G-A c.658C>T p.Pro220Ser Missense 5/17 - 1
11-117098436-C-T c.604-398G>A - IntronicSNV - 4/16 1
11-117098936-T-C c.599A>G p.Asn200Ser Missense 4/17 - 2
11-117098969-C-G c.566G>C p.Gly189Ala Missense 4/17 - 1
11-117098976-C-T c.559G>A p.Asp187Asn Missense 4/17 - 1
11-117098999-CG-GC c.535_536delinsGC p.Arg179Ala Missense 4/17 - 1
11-117099006-T-C c.529A>G p.Thr177Ala Missense 4/17 - 1
11-117099029-GT-CT c.506delinsG p.Thr169Arg Missense 4/17 - 1
11-117099044-CT-CA c.490delinsT p.Arg164Trp Missense 4/17 - 1
11-117099353-G-A c.469-287C>T - IntronicSNV - 3/16 1
11-117099353-G-T c.469-287C>A - IntronicSNV - 3/16 1
11-117099537-T-C c.469-471A>G - IntronicSNV - 3/16 2
11-117099941-G-C c.468+152C>G - IntronicSNV - 3/16 1
11-117099941-G-T c.468+152C>A - IntronicSNV - 3/16 1
11-117100029-G-A c.468+64C>T - IntronicSNV - 3/16 1
11-117100134-C-A c.427G>T p.Val143Phe Missense 3/17 - 1
11-117100134-C-T c.427G>A p.Val143Ile Missense 3/17 - 1
11-117100160-CT-GA c.400_401delinsTC p.Arg134Ser Missense 3/17 - 1
11-117100172-TG-GC c.388_389delinsGC p.His130Ala Missense 3/17 - 1
11-117100179-G-A c.382C>T p.Arg128Cys Missense 3/17 - 1
11-117100184-GC-TG c.376_377delinsCA p.Ala126His Missense 3/17 - 1
11-117100201-CAC-TGT c.358_360delinsACA p.Val120Thr Missense 3/17 - 2
11-117100204-AGC-TGG c.355_357delinsCCA p.Ala119Pro Missense 3/17 - 1
11-117100242-C-T c.319G>A p.Ala107Thr Missense 3/17 - 1
11-117100257-C-G c.304G>C p.Ala102Pro Missense 3/17 - 4
11-117100257-C-T c.304G>A p.Ala102Thr Missense 3/17 - 4
11-117100280-C-T c.281G>A p.Gly94Glu Missense 3/17 - 1
11-117100346-T-A c.215A>T p.Gln72Leu Missense 3/17 - 1
11-117100370-T-G c.191A>C p.Asp64Ala Missense 3/17 - 1
11-117100376-T-G c.185A>C p.Glu62Ala Missense 3/17 - 1
11-117100411-CCC-TGT c.148_150delinsACA p.Gly50Thr Missense 3/17 - 1
11-117100418-C-A c.143G>T p.Gly48Val Missense 3/17 - 1
11-117100418-C-G c.143G>C p.Gly48Ala Missense 3/17 - 1
11-117100425-C-A c.136G>T p.Gly46Cys Missense 3/17 - 1
11-117100465-AAC-AAG c.94delinsC p.Val32Leu Missense 3/17 - 1
11-117100474-GAA-GAG c.85delinsC p.Phe29Leu Missense 3/17 - 1
11-117100484-GC-TT c.76_77delinsAA p.Ala26Asn Missense 3/17 - 1
11-117100484-G-T c.77C>A p.Ala26Asp Missense 3/17 - 1
11-117100493-AG-AC c.67delinsG p.Leu23Val Missense 3/17 - 1
11-117100516-CAG-TGT c.43_45delinsACA p.Leu15Thr Missense 3/17 - 1
11-117100549-C-A c.12G>T p.Gly4Gly Synonymous 3/17 - 1
11-117100549-C-G c.12G>C p.Gly4Gly Synonymous 3/17 - 1
11-117100549-C-T c.12G>A p.Gly4Gly Synonymous 3/17 - 1
11-117100555-C-A c.6G>T p.Pro2Pro Synonymous 3/17 - 1
11-117100555-C-G c.6G>C p.Pro2Pro Synonymous 3/17 - 1
11-117100555-C-T c.6G>A p.Pro2Pro Synonymous 3/17 - 1
11-117100594-A-G c.-12-22T>C - IntronicSNV - 2/16 2
11-117102307-A-G c.-133+436T>C - intron_variant - 1/16 1