LRP1 LDL receptor related protein 1

Canonical transcript: NM_002332

268 unique variant annotations were identified in 317 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-57522754-A-C c.7A>C p.Thr3Pro Missense 1/89 - 3
12-57522775-CT-GA c.28_29delinsGA p.Leu10Glu Missense 1/89 - 1
12-57522781-CT-GC c.34_35delinsGC p.Leu12Ala Missense 1/89 - 1
12-57522894-G-A c.67+80G>A - IntronicSNV - 1/88 1
12-57525756-G-A c.67+2942G>A - IntronicSNV - 1/88 3
12-57525756-G-C c.67+2942G>C - IntronicSNV - 1/88 3
12-57526646-G-A c.67+3832G>A - IntronicSNV - 1/88 1
12-57526646-G-C c.67+3832G>C - IntronicSNV - 1/88 1
12-57526646-G-T c.67+3832G>T - IntronicSNV - 1/88 1
12-57527283-T-C c.67+4469T>C - IntronicSNV - 1/88 82
12-57528679-G-A c.68-3563G>A - IntronicSNV - 1/88 1
12-57530341-C-A c.68-1901C>A - IntronicSNV - 1/88 2
12-57530670-T-C c.68-1572T>C - IntronicSNV - 1/88 13
12-57530814-T-C c.68-1428T>C - IntronicSNV - 1/88 1
12-57531450-A-G c.68-792A>G - IntronicSNV - 1/88 1
12-57531632-A-G c.68-610A>G - IntronicSNV - 1/88 2
12-57531632-A-T c.68-610A>T - IntronicSNV - 1/88 2
12-57532244-C-G c.70C>G p.Pro24Ala Missense 2/89 - 1
12-57532251-C-A c.77C>A p.Thr26Asn Missense 2/89 - 1
12-57532262-AA-GC c.88_89delinsGC p.Lys30Ala Missense 2/89 - 1
12-57532282-T-C c.108T>C p.Asp36Asp Synonymous 2/89 - 1
12-57532298-TCA-GAC c.124_126delinsGAC p.Ser42Asp Missense 2/89 - 1
12-57532298-TC-GA c.124_125inv p.Ser42Glu Missense 2/89 - 1
12-57532298-TC-GG c.124_125delinsGG p.Ser42Gly Missense 2/89 - 1
12-57532299-CA-TT c.125_126delinsTT p.Ser42Phe Missense 2/89 - 1
12-57532310-C-T c.136C>T p.Arg46Trp Missense 2/89 - 1
12-57532313-TG-AC c.139_140delinsAC p.Cys47Thr Missense 2/89 - 2
12-57532315-C-G c.141C>G p.Cys47Trp Missense 2/89 - 1
12-57532322-G-C c.148G>C p.Glu50Gln Missense 2/89 - 1
12-57532563-G-A c.190+199G>A - IntronicSNV - 2/88 1
12-57532749-G-C c.190+385G>C - IntronicSNV - 2/88 10
12-57532982-T-C c.190+618T>C - IntronicSNV - 2/88 24
12-57533690-C-A c.190+1326C>A - IntronicSNV - 2/88 21
12-57534470-G-A c.191-687G>A - IntronicSNV - 2/88 47
12-57534470-G-C c.191-687G>C - IntronicSNV - 2/88 47
12-57535165-AG-CC c.199_200delinsCC p.Ser67Pro Missense 3/89 - 1
12-57535266-C-A c.300C>A p.Asp100Glu Missense 3/89 - 37
12-57535266-C-T c.300C>T p.Asp100Asp Synonymous 3/89 - 38
12-57535292-G-A c.326G>A p.Arg109Gln Missense 3/89 - 1
12-57537485-CT-GC c.352_353delinsGC p.Leu118Ala Missense 4/89 - 1
12-57537569-AA-GC c.436_437delinsGC p.Lys146Ala Missense 4/89 - 1
12-57537569-A-C c.436A>C p.Lys146Gln Missense 4/89 - 1
12-57537569-A-G c.436A>G p.Lys146Glu Missense 4/89 - 2
12-57538772-GT-AA c.466_467delinsAA p.Val156Lys Missense 5/89 - 1
12-57538776-A-G c.470A>G p.Tyr157Cys Missense 5/89 - 1
12-57538812-G-A c.506G>A p.Gly169Asp Missense 5/89 - 1
12-57538835-G-T c.529G>T p.Glu177* Nonsense 5/89 - 1
12-57538836-A-G c.530A>G p.Glu177Gly Missense 5/89 - 1
12-57538877-AA-GC c.571_572delinsGC p.Lys191Ala Missense 5/89 - 1
12-57539049-C-G c.617C>G p.Ser206Cys Missense 6/89 - 1
12-57539082-C-T c.650C>T p.Ala217Val Missense 6/89 - 8
12-57539084-C-A c.652C>A p.Gln218Lys Missense 6/89 - 1
12-57539151-A-C c.719A>C p.Glu240Ala Missense 6/89 - 1
12-57539162-TG-GC c.730_731delinsGC p.Trp244Ala Missense 6/89 - 1
12-57539187-C-G c.755C>G p.Ala252Gly Missense 6/89 - 2
12-57539210-C-T c.778C>T p.Arg260Cys Missense 6/89 - 1
12-57539237-G-A c.805G>A p.Asp269Asn Missense 6/89 - 1
12-57539240-G-A c.808G>A p.Glu270Lys Missense 6/89 - 1
12-57539265-G-T c.833G>T p.Ser278Ile Missense 6/89 - 1
12-57539834-G-A c.841+561G>A - IntronicSNV - 6/88 1
12-57540751-C-G c.841+1478C>G - IntronicSNV - 6/88 5
12-57540848-C-G c.841+1575C>G - IntronicSNV - 6/88 11
12-57541265-C-T c.841+1992C>T - IntronicSNV - 6/88 6
12-57543572-C-G c.841+4299C>G - IntronicSNV - 6/88 9
12-57543572-C-T c.841+4299C>T - IntronicSNV - 6/88 9
12-57545756-G-A c.842-2235G>A - IntronicSNV - 6/88 2
12-57548005-G-A c.856G>A p.Ala286Thr Missense 7/89 - 1
12-57548044-GA-AG c.895_896delinsAG p.Asp299Ser Missense 7/89 - 1
12-57548045-A-T c.896A>T p.Asp299Val Missense 7/89 - 1
12-57548102-T-G c.953T>G p.Leu318Arg Missense 7/89 - 1
12-57548364-T-C c.1107T>C p.Pro369Pro Synonymous 8/89 - 2
12-57548389-AG-CT c.1132_1133inv p.Ser378Leu Missense 8/89 - 1
12-57548393-G-A c.1136G>A p.Arg379His Missense 8/89 - 1
12-57548466-C-T c.1209C>T p.Thr403Thr Synonymous 8/89 - 2
12-57549135-C-G c.1227+651C>G - IntronicSNV - 8/88 1
12-57549935-A-C c.1286A>C p.Asp429Ala Missense 9/89 - 1
12-57549952-CA-GC c.1303_1304delinsGC p.Gln435Ala Missense 9/89 - 1
12-57549988-AGC-TGA c.1339_1341delinsTGA p.Ser447* Nonsense 9/89 - 3
12-57550024-G-A c.1375G>A p.Gly459Ser Missense 9/89 - 1
12-57550583-G-A c.1441G>A p.Asp481Asn Missense 10/89 - 1
12-57550643-GCG-TGT c.1501_1503delinsTGT p.Ala501Cys Missense 10/89 - 1
12-57550649-A-C c.1507A>C p.Thr503Pro Missense 10/89 - 1
12-57550649-A-G c.1507A>G p.Thr503Ala Missense 10/89 - 1
12-57550699-C-G c.1557C>G p.Cys519Trp Missense 10/89 - 1
12-57550700-A-C c.1558A>C p.Lys520Gln Missense 10/89 - 1
12-57552190-G-C c.1567G>C p.Glu523Gln Missense 11/89 - 1
12-57552200-T-C c.1577T>C p.Leu526Pro Missense 11/89 - 1
12-57552223-CG-TA c.1600_1601delinsTA p.Arg534* Nonsense 11/89 - 1
12-57552400-CGG-TGT c.1777_1779delinsTGT p.Arg593Cys Missense 11/89 - 1
12-57553621-G-T c.1812G>T p.Val604Val Synonymous 12/89 - 1
12-57554770-T-C c.2074T>C p.Phe692Leu Missense 13/89 - 1
12-57554772-T-A c.2076T>A p.Phe692Leu Missense 13/89 - 1
12-57554772-T-G c.2076T>G p.Phe692Leu Missense 13/89 - 1
12-57556198-C-T c.2301C>T p.Arg767Arg Synonymous 14/89 - 1
12-57556205-C-T c.2308C>T p.Arg770Trp Missense 14/89 - 2
12-57556220-G-A c.2323G>A p.Ala775Thr Missense 14/89 - 2
12-57556220-G-C c.2323G>C p.Ala775Pro Missense 14/89 - 2
12-57556236-C-A c.2339C>A p.Thr780Asn Missense 14/89 - 2
12-57556236-C-T c.2339C>T p.Thr780Ile Missense 14/89 - 2
12-57556250-G-A c.2353G>A p.Glu785Lys Missense 14/89 - 1
12-57556265-T-A c.2368T>A p.Phe790Ile Missense 14/89 - 1
12-57556280-TA-GC c.2383_2384delinsGC p.Tyr795Ala Missense 14/89 - 1
12-57556468-C-T c.2404+167C>T - IntronicSNV - 14/88 1
12-57556498-C-T c.2405-143C>T - IntronicSNV - 14/88 1
12-57556792-G-A c.2530+26G>A - IntronicSNV - 15/88 1
12-57558505-G-C c.2531-1083G>C - IntronicSNV - 15/88 3
12-57558505-G-T c.2531-1083G>T - IntronicSNV - 15/88 3
12-57559568-C-T c.2531-20C>T - IntronicSNV - 15/88 1
12-57559653-T-A c.2596T>A p.Cys866Ser Missense 16/89 - 1
12-57559654-G-C c.2597G>C p.Cys866Ser Missense 16/89 - 1
12-57559782-C-T c.2671+54C>T - IntronicSNV - 16/88 1
12-57559809-G-A c.2672-58G>A - IntronicSNV - 16/88 3
12-57559884-TC-GG c.2689_2690delinsGG p.Ser897Gly Missense 17/89 - 1
12-57559899-T-G c.2704T>G p.Cys902Gly Missense 17/89 - 1
12-57559914-T-G c.2719T>G p.Cys907Gly Missense 17/89 - 1
12-57559951-A-G c.2756A>G p.Asp919Gly Missense 17/89 - 1
12-57559977-AA-GC c.2782_2783delinsGC p.Asn928Ala Missense 17/89 - 1
12-57559978-A-T c.2783A>T p.Asn928Ile Missense 17/89 - 1
12-57560825-G-A c.2910G>A p.Ser970Ser Synonymous 18/89 - 1
12-57560943-T-C c.2914+114T>C - IntronicSNV - 18/88 1
12-57561379-G-T c.2995+72G>T - IntronicSNV - 19/88 3
12-57561451-C-A c.2995+144C>A - IntronicSNV - 19/88 2
12-57561451-C-G c.2995+144C>G - IntronicSNV - 19/88 2
12-57561451-C-T c.2995+144C>T - IntronicSNV - 19/88 2
12-57564478-C-T c.3163+1388C>T - IntronicSNV - 20/88 1
12-57566995-C-T c.3208C>T p.Arg1070Trp Missense 21/89 - 1
12-57567016-C-A c.3229C>A p.Pro1077Thr Missense 21/89 - 1
12-57567122-G-T c.3335G>T p.Cys1112Phe Missense 21/89 - 1
12-57567742-TCA-GAC c.3526_3528delinsGAC p.Ser1176Asp Missense 22/89 - 1
12-57567748-G-C c.3532G>C p.Glu1178Gln Missense 22/89 - 1
12-57567754-G-C c.3538G>C p.Glu1180Gln Missense 22/89 - 1
12-57567762-C-A c.3546C>A p.Cys1182* Nonsense 22/89 - 2
12-57567762-C-T c.3546C>T p.Cys1182Cys Synonymous 22/89 - 2
12-57569339-G-A c.3644G>A p.Gly1215Glu Missense 23/89 - 4
12-57569339-G-T c.3644G>T p.Gly1215Val Missense 23/89 - 4
12-57569478-C-A c.3783C>A p.Cys1261* Nonsense 23/89 - 5
12-57569478-C-T c.3783C>T p.Cys1261Cys Synonymous 23/89 - 6
12-57569833-A-G c.3935A>G p.Tyr1312Cys Missense 24/89 - 1
12-57570949-CTG-TTT c.4117_4119delinsTTT p.Leu1373Phe Missense 25/89 - 1
12-57570959-C-A c.4127C>A p.Thr1376Asn Missense 25/89 - 1
12-57571249-C-T c.4236C>T p.Arg1412Arg Synonymous 26/89 - 1
12-57571288-C-T c.4275C>T p.Thr1425Thr Synonymous 26/89 - 1
12-57571326-G-C c.4313G>C p.Gly1438Ala Missense 26/89 - 1
12-57572248-GG-G c.4468del p.Glu1490Argfs*80 Frameshift 27/89 - 1
12-57572249-A-G c.4469A>G p.Glu1490Gly Missense 27/89 - 1
12-57572366-A-C c.4586A>C p.His1529Pro Missense 27/89 - 1
12-57572747-G-A c.4681G>A p.Val1561Met Missense 28/89 - 1
12-57572747-G-T c.4681G>T p.Val1561Leu Missense 28/89 - 1
12-57573267-TC-CT c.4894_4895delinsCT p.Ser1632Leu Missense 29/89 - 1
12-57573670-G-C c.5072G>C p.Gly1691Ala Missense 30/89 - 1
12-57574261-G-A c.5385G>A p.Met1795Ile Missense 32/89 - 1
12-57574261-G-C c.5385G>C p.Met1795Ile Missense 32/89 - 1
12-57574261-G-T c.5385G>T p.Met1795Ile Missense 32/89 - 1
12-57575021-C-G c.5609C>G p.Ser1870Cys Missense 34/89 - 1
12-57575070-C-A c.5658C>A p.Cys1886* Nonsense 34/89 - 1
12-57575070-C-T c.5658C>T p.Cys1886Cys Synonymous 34/89 - 1
12-57575843-C-T c.5662+769C>T - IntronicSNV - 34/88 1
12-57577213-C-T c.5714C>T p.Pro1905Leu Missense 35/89 - 1
12-57577614-C-T c.5851C>T p.Arg1951Trp Missense 36/89 - 1
12-57577915-C-T c.5977C>T p.Arg1993Trp Missense 37/89 - 5
12-57578288-C-T c.6186+53C>T - IntronicSNV - 38/88 4
12-57578673-G-A c.6238G>A p.Asp2080Asn Missense 39/89 - 6
12-57578751-G-T c.6316G>T p.Asp2106Tyr Missense 39/89 - 1
12-57578881-C-A c.6356C>A p.Ser2119Tyr Missense 40/89 - 1
12-57578974-GG-AT c.6449_6450delinsAT p.Arg2150His Missense 40/89 - 1
12-57579328-G-A c.6478G>A p.Ala2160Thr Missense 41/89 - 1
12-57579450-C-A c.6600C>A p.Tyr2200* Nonsense 41/89 - 3
12-57580414-T-C c.6842-636T>C - IntronicSNV - 41/88 1
12-57581028-C-G c.6842-22C>G - IntronicSNV - 41/88 1
12-57582547-G-A c.7031+1308G>A - IntronicSNV - 42/88 1
12-57583672-C-A c.7032-916C>A - IntronicSNV - 42/88 4
12-57585144-C-G c.7278C>G p.Ala2426Ala Synonymous 44/89 - 2
12-57585144-C-T c.7278C>T p.Ala2426Ala Synonymous 44/89 - 2
12-57585281-A-G c.7415A>G p.Asn2472Ser Missense 44/89 - 2
12-57587039-G-A c.7636G>A p.Gly2546Ser Missense 46/89 - 5
12-57587040-G-A c.7637G>A p.Gly2546Asp Missense 46/89 - 1
12-57587715-G-A c.7838G>A p.Arg2613Gln Missense 48/89 - 2
12-57587717-G-A c.7840G>A p.Asp2614Asn Missense 48/89 - 1
12-57587773-C-A c.7896C>A p.Asp2632Glu Missense 48/89 - 1
12-57587773-C-T c.7896C>T p.Asp2632Asp Synonymous 48/89 - 1
12-57587839-C-T c.7918+44C>T - IntronicSNV - 48/88 1
12-57588275-G-A c.8057G>A p.Arg2686His Missense 49/89 - 1
12-57588323-C-A c.8068+37C>A - IntronicSNV - 49/88 1
12-57588323-C-T c.8068+37C>T - IntronicSNV - 49/88 1
12-57588368-C-T c.8077C>T p.Arg2693Cys Missense 50/89 - 1
12-57588433-G-A c.8142G>A p.Thr2714Thr Synonymous 50/89 - 2
12-57589067-C-A c.8322C>A p.Cys2774* Nonsense 52/89 - 1
12-57589067-C-T c.8322C>T p.Cys2774Cys Synonymous 52/89 - 1
12-57589510-T-C c.8507T>C p.Val2836Ala Missense 53/89 - 2
12-57589659-C-T c.8574C>T p.Cys2858Cys Synonymous 54/89 - 6
12-57589676-G-A c.8591G>A p.Arg2864His Missense 54/89 - 2
12-57589784-A-C c.8699A>C p.Gln2900Pro Missense 54/89 - 2
12-57589865-C-T c.8702-5C>T - IntronicSNV - 54/88 1
12-57590758-C-T c.8893-7C>T - IntronicSNV - 55/88 4
12-57590797-C-T c.8925C>T p.Asp2975Asp Synonymous 56/89 - 3
12-57590871-A-G c.8999A>G p.His3000Arg Missense 56/89 - 1
12-57590901-G-C c.9029G>C p.Gly3010Ala Missense 56/89 - 1
12-57590915-G-A c.9043G>A p.Gly3015Ser Missense 56/89 - 3
12-57590916-G-A c.9044G>A p.Gly3015Asp Missense 56/89 - 1
12-57591226-T-A c.9162+59T>A - IntronicSNV - 57/88 5
12-57591226-T-C c.9162+59T>C - IntronicSNV - 57/88 5
12-57591424-C-A c.9259C>A p.His3087Asn Missense 58/89 - 1
12-57591424-C-T c.9259C>T p.His3087Tyr Missense 58/89 - 1
12-57592066-C-T c.9410C>T p.Thr3137Met Missense 59/89 - 1
12-57592090-G-A c.9434G>A p.Arg3145His Missense 59/89 - 1
12-57592557-C-G c.9676+104C>G - IntronicSNV - 60/88 8
12-57592557-C-T c.9676+104C>T - IntronicSNV - 60/88 8
12-57593048-G-A c.9730G>A p.Val3244Ile Missense 61/89 - 2
12-57593092-C-G c.9774C>G p.His3258Gln Missense 61/89 - 1
12-57593101-G-A c.9783G>A p.Thr3261Thr Synonymous 61/89 - 4
12-57593101-G-C c.9783G>C p.Thr3261Thr Synonymous 61/89 - 4
12-57593101-G-T c.9783G>T p.Thr3261Thr Synonymous 61/89 - 1
12-57593276-G-A c.9865+93G>A - IntronicSNV - 61/88 1
12-57593894-A-G c.10014+86A>G - IntronicSNV - 62/88 10
12-57594271-A-G c.10061A>G p.Asp3354Gly Missense 63/89 - 1
12-57594511-CC-C c.10138del p.Gln3380Serfs*72 Frameshift 64/89 - 1
12-57594554-A-G c.10181A>G p.Asp3394Gly Missense 64/89 - 1
12-57594563-A-G c.10190A>G p.Asn3397Ser Missense 64/89 - 1
12-57594955-G-A c.10345+19G>A - IntronicSNV - 65/88 2
12-57594955-G-C c.10345+19G>C - IntronicSNV - 65/88 2
12-57595066-G-A c.10345+130G>A - IntronicSNV - 65/88 3
12-57595592-CGC-TGG c.10498_10500delinsTGG p.Arg3500Trp Missense 67/89 - 1
12-57595593-GC-AA c.10499_10500delinsAA p.Arg3500Gln Missense 67/89 - 1
12-57595984-C-T c.10595-220C>T - IntronicSNV - 67/88 2
12-57596276-A-G c.10667A>G p.Asp3556Gly Missense 68/89 - 1
12-57597036-A-G c.10784A>G p.Asp3595Gly Missense 69/89 - 1
12-57597251-A-G c.10898A>G p.Asp3633Gly Missense 70/89 - 1
12-57597253-G-A c.10900G>A p.Ala3634Thr Missense 70/89 - 1
12-57597253-G-T c.10900G>T p.Ala3634Ser Missense 70/89 - 1
12-57598262-A-G c.11021A>G p.Asp3674Gly Missense 71/89 - 3
12-57598450-G-C c.11112G>C p.Lys3704Asn Missense 72/89 - 1
12-57598450-G-T c.11112G>T p.Lys3704Asn Missense 72/89 - 1
12-57598475-G-A c.11137G>A p.Gly3713Arg Missense 72/89 - 1
12-57598512-G-A c.11174G>A p.Gly3725Glu Missense 72/89 - 3
12-57598513-G-A c.11175G>A p.Gly3725Gly Synonymous 72/89 - 1
12-57598897-C-A c.11200C>A p.Pro3734Thr Missense 73/89 - 1
12-57599365-G-C c.11495G>C p.Gly3832Ala Missense 75/89 - 1
12-57599421-C-G c.11551C>G p.Arg3851Gly Missense 75/89 - 1
12-57599421-C-T c.11551C>T p.Arg3851Trp Missense 75/89 - 1
12-57600505-G-A c.11840G>A p.Arg3947Gln Missense 76/89 - 1
12-57600508-G-A c.11843G>A p.Gly3948Asp Missense 76/89 - 1
12-57601891-C-A c.11930C>A p.Ser3977* Nonsense 77/89 - 1
12-57601891-C-T c.11930C>T p.Ser3977Leu Missense 77/89 - 1
12-57601910-G-T c.11949G>T p.Glu3983Asp Missense 77/89 - 1
12-57602503-C-A c.12048C>A p.Tyr4016* Nonsense 78/89 - 1
12-57602503-C-G c.12048C>G p.Tyr4016* Nonsense 78/89 - 1
12-57602815-C-A c.12146-51C>A - IntronicSNV - 78/88 11
12-57602815-C-G c.12146-51C>G - IntronicSNV - 78/88 11
12-57602815-C-T c.12146-51C>T - IntronicSNV - 78/88 11
12-57602881-A-T c.12161A>T p.Tyr4054Phe Missense 79/89 - 2
12-57602950-C-G c.12230C>G p.Thr4077Arg Missense 79/89 - 1
12-57602950-C-T c.12230C>T p.Thr4077Met Missense 79/89 - 1
12-57603920-T-G c.12548T>G p.Val4183Gly Missense 81/89 - 1
12-57603939-G-A c.12567G>A p.Thr4189Thr Synonymous 81/89 - 1
12-57603947-C-CC c.12575dup p.Asp4193Argfs*9 Frameshift 81/89 - 2
12-57604802-A-G c.12916+140A>G - IntronicSNV - 83/88 3
12-57605313-G-A c.13135G>A p.Gly4379Ser Missense 85/89 - 2
12-57605545-C-A c.13206C>A p.His4402Gln Missense 86/89 - 1
12-57605561-T-C c.13222T>C p.Cys4408Arg Missense 86/89 - 1
12-57605751-GCTG-G c.13300_13302del p.Leu4434del InFrameDeletion 87/89 - 1
12-57605968-A-T c.13418A>T p.Tyr4473Phe Missense 88/89 - 2
12-57606021-G-A c.13471G>A p.Asp4491Asn Missense 88/89 - 1
12-57606021-G-C c.13471G>C p.Asp4491His Missense 88/89 - 1
12-57606222-TAT-GAG c.13519_13521delinsGAG p.Tyr4507Glu Missense 89/89 - 2
12-57606223-A-T c.13520A>T p.Tyr4507Phe Missense 89/89 - 1
12-57606255-C-A c.13552C>A p.Arg4518Ser Missense 89/89 - 1
12-57606255-C-T c.13552C>T p.Arg4518Cys Missense 89/89 - 1
12-57606386-A-G c.*48A>G - 3-UTRSNV 89/89 - 2