LDLRAP1 low density lipoprotein receptor adaptor protein 1

Canonical transcript: NM_015627

89 unique variant annotations were identified in 74 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-25870219-G-A c.30G>A p.Ala10Ala Synonymous 1/9 - 1
1-25870219-G-C c.30G>C p.Ala10Ala Synonymous 1/9 - 1
1-25870219-G-T c.30G>T p.Ala10Ala Synonymous 1/9 - 1
1-25870254-G-A c.65G>A p.Trp22* Nonsense 1/9 - 4
1-25870254-G-C c.65G>C p.Trp22Ser Missense 1/9 - 2
1-25870255-G-A c.66G>A p.Trp22* Nonsense 1/9 - 4
1-25877492-C-T c.89-2921C>T - IntronicSNV - 1/8 1
1-25880448-CT-GC c.124_125delinsGC p.Leu42Ala Missense 2/9 - 1
1-25880467-T-C c.143T>C p.Phe48Ser Missense 2/9 - 1
1-25880476-A-T c.152A>T p.Lys51Met Missense 2/9 - 1
1-25880491-C-T c.167C>T p.Thr56Met Missense 2/9 - 1
1-25880516-G-C c.192G>C p.Glu64Asp Missense 2/9 - 1
1-25880516-G-T c.192G>T p.Glu64Asp Missense 2/9 - 1
1-25880551-C-T c.227C>T p.Ala76Val Missense 2/9 - 1
1-25881393-G-A c.274G>A p.Val92Met Missense 3/9 - 2
1-25881405-GGA-AGC c.286_288delinsAGC p.Gly96Ser Missense 3/9 - 1
1-25881459-TA-GC c.340_341delinsGC p.Tyr114Ala Missense 3/9 - 2
1-25883613-G-C c.345-31G>C - IntronicSNV - 3/8 1
1-25883649-C-A c.350C>A p.Ser117Tyr Missense 4/9 - 1
1-25883649-C-T c.350C>T p.Ser117Phe Missense 4/9 - 1
1-25883687-G-C c.388G>C p.Ala130Pro Missense 4/9 - 1
1-25883696-G-A c.397G>A p.Ala133Thr Missense 4/9 - 1
1-25883705-C-T c.406C>T p.Gln136* Nonsense 4/9 - 3
1-25883720-C-A c.421C>A p.Leu141Ile Missense 4/9 - 1
1-25883720-C-G c.421C>G p.Leu141Val Missense 4/9 - 1
1-25883720-C-T c.421C>T p.Leu141Phe Missense 4/9 - 5
1-25883720-CTC-ATG c.421_423delinsATG p.Leu141Met Missense 4/9 - 1
1-25883730-A-AA c.431dup p.His144Glnfs*27 Frameshift 4/9 - 1
1-25883731-C-CA c.432_433insA p.Ala145Serfs*26 Frameshift 4/9 - 1
1-25883747-A-G c.448A>G p.Lys150Glu Missense 4/9 - 1
1-25883750-CGG-TGT c.451_453delinsTGT p.Arg151Cys Missense 4/9 - 1
1-25883780-G-T c.459+22G>T - IntronicSNV - 4/8 1
1-25883842-G-A c.459+84G>A - IntronicSNV - 4/8 1
1-25885528-G-A c.459+1770G>A - IntronicSNV - 4/8 1
1-25885592-G-A c.459+1834G>A - IntronicSNV - 4/8 1
1-25887525-G-A c.460-1610G>A - IntronicSNV - 4/8 1
1-25889165-G-T c.490G>T p.Ala164Ser Missense 5/9 - 1
1-25889168-TT-GC c.493_494delinsGC p.Phe165Ala Missense 5/9 - 1
1-25889196-T-A c.521T>A p.Val174Glu Missense 5/9 - 1
1-25889196-T-C c.521T>C p.Val174Ala Missense 5/9 - 1
1-25889198-TC-CT c.523_524delinsCT p.Ser175Leu Missense 5/9 - 1
1-25889422-C-A c.533-139C>A - IntronicSNV - 5/8 4
1-25889422-C-T c.533-139C>T - IntronicSNV - 5/8 4
1-25889539-A-G c.533-22A>G - IntronicSNV - 5/8 1
1-25889623-TG-GC c.595_596delinsGC p.Cys199Ala Missense 6/9 - 1
1-25889632-T-A c.604T>A p.Ser202Thr Missense 6/9 - 11
1-25889632-T-C c.604T>C p.Ser202Pro Missense 6/9 - 14
1-25889632-TC-CA c.604_605delinsCA p.Ser202His Missense 6/9 - 1
1-25889632-T-G c.604T>G p.Ser202Ala Missense 6/9 - 11
1-25889641-AGC-TGA c.613_615delinsTGA p.Ser205* Nonsense 6/9 - 1
1-25889672-G-A c.616+28G>A - IntronicSNV - 6/8 2
1-25889917-T-A c.617-235T>A - IntronicSNV - 6/8 1
1-25889917-T-C c.617-235T>C - IntronicSNV - 6/8 1
1-25890050-A-G c.617-102A>G - IntronicSNV - 6/8 1
1-25890173-CT-C c.638del p.Leu213Argfs*3 Frameshift 7/9 - 1
1-25890189-A-G c.654A>G p.Thr218Thr Synonymous 7/9 - 3
1-25890215-G-A c.680G>A p.Ser227Asn Missense 7/9 - 1
1-25890217-G-T c.682G>T p.Ala228Ser Missense 7/9 - 1
1-25890247-C-T c.712C>T p.Arg238Trp Missense 7/9 - 4
1-25890274-G-C c.739G>C p.Val247Leu Missense 7/9 - 1
1-25890835-G-A c.747+553G>A - IntronicSNV - 7/8 4
1-25891174-G-A c.748-490G>A - IntronicSNV - 7/8 3
1-25891691-TT-GC c.775_776delinsGC p.Phe259Ala Missense 8/9 - 2
1-25891959-G-A c.782+261G>A - IntronicSNV - 8/8 1
1-25891971-C-G c.782+273C>G - IntronicSNV - 8/8 1
1-25891971-C-T c.782+273C>T - IntronicSNV - 8/8 1
1-25892298-G-C c.782+600G>C - IntronicSNV - 8/8 2
1-25892298-G-T c.782+600G>T - IntronicSNV - 8/8 2
1-25892525-T-C c.783-814T>C - IntronicSNV - 8/8 1
1-25892880-T-A c.783-459T>A - IntronicSNV - 8/8 3
1-25892880-T-G c.783-459T>G - IntronicSNV - 8/8 3
1-25893221-G-C c.783-118G>C - IntronicSNV - 8/8 1
1-25893221-G-T c.783-118G>T - IntronicSNV - 8/8 1
1-25893242-T-C c.783-97T>C - IntronicSNV - 8/8 3
1-25893243-G-A c.783-96G>A - IntronicSNV - 8/8 1
1-25893340-C-T c.784C>T p.Leu262Phe Missense 9/9 - 1
1-25893340-CT-TA c.784_785delinsTA p.Leu262Tyr Missense 9/9 - 1
1-25893340-CTT-GAG c.784_786delinsGAG p.Leu262Glu Missense 9/9 - 1
1-25893352-CG-GC c.796_797delinsGC p.Arg266Ala Missense 9/9 - 2
1-25893367-G-A c.811G>A p.Val271Ile Missense 9/9 - 1
1-25893394-G-T c.838G>T p.Asp280Tyr Missense 9/9 - 1
1-25893412-TG-GC c.856_857delinsGC p.Cys286Ala Missense 9/9 - 1
1-25893445-AG-CT c.889_890inv p.Ser297Leu Missense 9/9 - 1
1-25894653-T-G c.*1170T>G - 3-UTRSNV 9/9 - 1
1-25894853-G-T c.*1370G>T - 3-UTRSNV 9/9 - 4
1-25895238-C-A c.*1755C>A - 3-UTRSNV 9/9 - 2
1-25895238-C-T c.*1755C>T - 3-UTRSNV 9/9 - 2
1-25895277-G-A c.*1794G>A - 3-UTRSNV 9/9 - 2
1-25895277-G-C c.*1794G>C - 3-UTRSNV 9/9 - 2