HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2

Canonical transcript: NM_004667

188 unique variant annotations were identified in 347 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-28356859-C-T c.*50G>A - 3-UTRSNV 93/93 - 60
15-28356935-T-C c.14479A>G p.Thr4827Ala Missense 93/93 - 1
15-28357129-CA-GC c.14284_14285delinsGC p.Cys4762Ala Missense 93/93 - 2
15-28357129-C-G c.14285G>C p.Cys4762Ser Missense 93/93 - 2
15-28357130-A-T c.14284T>A p.Cys4762Ser Missense 93/93 - 2
15-28358774-C-T c.13964G>A p.Arg4655His Missense 91/93 - 1
15-28359258-G-A c.13914-434C>T - IntronicSNV - 90/92 4
15-28361853-C-T c.13567G>A p.Ala4523Thr Missense 88/93 - 1
15-28364059-A-C c.13273-1759T>G - IntronicSNV - 86/92 1
15-28364059-A-G c.13273-1759T>C - IntronicSNV - 86/92 1
15-28364954-G-A c.13272+1538C>T - IntronicSNV - 86/92 1
15-28365431-A-C c.13272+1061T>G - IntronicSNV - 86/92 4
15-28365431-A-G c.13272+1061T>C - IntronicSNV - 86/92 4
15-28365618-A-G c.13272+874T>C - IntronicSNV - 86/92 203
15-28365733-C-A c.13272+759G>T - IntronicSNV - 86/92 17
15-28368969-C-T c.13188+214G>A - IntronicSNV - 85/92 4
15-28370292-C-G c.12850G>C p.Gly4284Arg Missense 84/93 - 1
15-28370292-C-T c.12850G>A p.Gly4284Arg Missense 84/93 - 1
15-28370389-C-T c.12803-50G>A - IntronicSNV - 83/92 1
15-28374012-T-A c.12802+1297A>T - IntronicSNV - 83/92 5
15-28374012-T-C c.12802+1297A>G - IntronicSNV - 83/92 5
15-28375414-A-T c.12697T>A p.Ser4233Thr Missense 83/93 - 2
15-28377371-C-T c.12445G>A p.Ala4149Thr Missense 81/93 - 1
15-28380518-T-A c.12230+106A>T - IntronicSNV - 79/92 2
15-28380739-T-C c.12115A>G p.Ile4039Val Missense 79/93 - 1
15-28381536-T-C c.12016-698A>G - IntronicSNV - 78/92 1
15-28381546-C-A c.12016-708G>T - IntronicSNV - 78/92 1
15-28384491-G-A c.12015+2087C>T - IntronicSNV - 78/92 1
15-28386626-C-T c.11967G>A p.Gln3989Gln Synonymous 78/93 - 10
15-28389352-C-T c.11170G>A p.Val3724Ile Missense 73/93 - 1
15-28391388-C-T c.11003G>A p.Arg3668Gln Missense 71/93 - 1
15-28391439-C-T c.10952G>A p.Arg3651His Missense 71/93 - 1
15-28396894-G-A c.10900+929C>T - IntronicSNV - 70/92 1
15-28396894-G-T c.10900+929C>A - IntronicSNV - 70/92 1
15-28399931-C-A c.10747-1955G>T - IntronicSNV - 69/92 1
15-28399931-C-G c.10747-1955G>C - IntronicSNV - 69/92 1
15-28399931-C-T c.10747-1955G>A - IntronicSNV - 69/92 1
15-28400060-C-A c.10747-2084G>T - IntronicSNV - 69/92 1
15-28400732-A-G c.10747-2756T>C - IntronicSNV - 69/92 1
15-28410491-C-T c.10555-2060G>A - IntronicSNV - 68/92 14
15-28412955-C-T c.10432G>A p.Ala3478Thr Missense 68/93 - 1
15-28415850-C-A c.10058-1049G>T - IntronicSNV - 65/92 1
15-28415850-C-T c.10058-1049G>A - IntronicSNV - 65/92 1
15-28416205-C-T c.10058-1404G>A - IntronicSNV - 65/92 1
15-28418286-C-G c.10057+1255G>C - IntronicSNV - 65/92 1
15-28418286-C-T c.10057+1255G>A - IntronicSNV - 65/92 1
15-28419566-T-C c.10032A>G p.Arg3344Arg Synonymous 65/93 - 1
15-28419606-G-A c.9992C>T p.Thr3331Met Missense 65/93 - 1
15-28419619-C-T c.9979G>A p.Val3327Met Missense 65/93 - 2
15-28419630-G-A c.9968C>T p.Ala3323Val Missense 65/93 - 1
15-28419630-G-C c.9968C>G p.Ala3323Gly Missense 65/93 - 1
15-28419659-G-A c.9939C>T p.Arg3313Arg Synonymous 65/93 - 1
15-28419659-G-C c.9939C>G p.Arg3313Arg Synonymous 65/93 - 1
15-28422609-C-A c.9210G>T p.Ser3070Ser Synonymous 60/93 - 1
15-28422609-C-T c.9210G>A p.Ser3070Ser Synonymous 60/93 - 1
15-28422644-C-T c.9175G>A p.Ala3059Thr Missense 60/93 - 1
15-28425771-G-C c.8938-1402C>G - IntronicSNV - 57/92 1
15-28425771-G-T c.8938-1402C>A - IntronicSNV - 57/92 1
15-28427986-T-A c.8826-328A>T - IntronicSNV - 56/92 6
15-28437229-T-C c.8329A>G p.Met2777Val Missense 53/93 - 1
15-28437270-G-C c.8288C>G p.Ser2763Cys Missense 53/93 - 1
15-28440287-T-A c.8260+1074A>T - IntronicSNV - 52/92 14
15-28440287-T-C c.8260+1074A>G - IntronicSNV - 52/92 14
15-28441432-T-G c.8189A>C p.Asp2730Ala Missense 52/93 - 1
15-28441495-T-G c.8126A>C p.Asp2709Ala Missense 52/93 - 1
15-28441498-C-G c.8123G>C p.Cys2708Ser Missense 52/93 - 1
15-28441499-A-T c.8122T>A p.Cys2708Ser Missense 52/93 - 1
15-28443658-G-T c.7886-9C>A - IntronicSNV - 49/92 6
15-28447562-A-G c.7411T>C p.Ser2471Pro Missense 46/93 - 1
15-28453215-A-G c.7070-1687T>C - IntronicSNV - 44/92 4
15-28455749-C-A c.7069+399G>T - IntronicSNV - 44/92 1
15-28455749-C-G c.7069+399G>C - IntronicSNV - 44/92 1
15-28456199-G-A c.7018C>T p.Arg2340Trp Missense 44/93 - 1
15-28456220-G-A c.6997C>T p.Leu2333Phe Missense 44/93 - 1
15-28457676-CAG-TTT c.6838_6840delinsAAA p.Leu2280Lys Missense 43/93 - 1
15-28458971-G-T c.6703C>A p.Arg2235Ser Missense 42/93 - 1
15-28459219-C-T c.6555+3G>A - IntronicSNV - 41/92 1
15-28459329-G-C c.6448C>G p.Leu2150Val Missense 41/93 - 1
15-28459392-G-A c.6385C>T p.Arg2129Cys Missense 41/93 - 1
15-28459415-G-A c.6362C>T p.Ser2121Phe Missense 41/93 - 1
15-28459415-GA-CT c.6361_6362delinsAG p.Ser2121Ser Missense 41/93 - 1
15-28460081-C-T c.6211-133G>A - IntronicSNV - 39/92 1
15-28460823-G-A c.6154C>T p.Leu2052Phe Missense 39/93 - 1
15-28460924-CT-GC c.6052_6053delinsGC p.Arg2018Ala Missense 39/93 - 1
15-28465765-C-T c.5678G>A p.Arg1893His Missense 37/93 - 1
15-28465787-C-G c.5656G>C p.Gly1886Arg Missense 37/93 - 1
15-28465787-C-T c.5656G>A p.Gly1886Arg Missense 37/93 - 1
15-28467280-T-C c.5546A>G p.Lys1849Arg Missense 36/93 - 1
15-28467935-T-C c.5465-574A>G - IntronicSNV - 35/92 1
15-28468231-G-A c.5465-870C>T - IntronicSNV - 35/92 1
15-28468723-T-G c.5465-1362A>C - IntronicSNV - 35/92 3
15-28472485-C-T c.5464+879G>A - IntronicSNV - 35/92 2
15-28473387-G-A c.5441C>T p.Thr1814Met Missense 35/93 - 1
15-28473398-C-A c.5430G>T p.Met1810Ile Missense 35/93 - 1
15-28474400-C-G c.5213G>C p.Trp1738Ser Missense 34/93 - 1
15-28474686-G-C c.5040C>G p.Ser1680Arg Missense 33/93 - 1
15-28475936-A-T c.4676-290T>A - IntronicSNV - 30/92 1
15-28478668-C-T c.4391G>A p.Gly1464Asp Missense 29/93 - 1
15-28482208-G-T c.3904C>A p.Leu1302Met Missense 26/93 - 1
15-28483811-C-T c.3685G>A p.Asp1229Asn Missense 24/93 - 1
15-28483903-C-A c.3593G>T p.Gly1198Val Missense 24/93 - 2
15-28487069-A-G c.3578-3151T>C - IntronicSNV - 23/92 1
15-28487329-G-A c.3578-3411C>T - IntronicSNV - 23/92 1
15-28488888-T-C c.3577+2139A>G - IntronicSNV - 23/92 18
15-28491062-T-A c.3542A>T p.Asp1181Val Missense 23/93 - 1
15-28493718-C-G c.3215G>C p.Gly1072Ala Missense 21/93 - 1
15-28494032-G-A c.3051-150C>T - IntronicSNV - 20/92 5
15-28494202-T-C c.3051-320A>G - IntronicSNV - 20/92 3
15-28496195-A-G c.3051-2313T>C - IntronicSNV - 20/92 2
15-28498326-C-CGGTC c.3050+1160_3050+1161insACCG - IntronicInsertion - 20/92 1
15-28499903-A-C c.2872-239T>G - IntronicSNV - 19/92 1
15-28501322-G-T c.2659C>A p.Gln887Lys Missense 18/93 - 1
15-28502236-C-T c.2488G>A p.Val830Met Missense 17/93 - 1
15-28502279-A-G c.2445T>C p.Gly815Gly Synonymous 17/93 - 3
15-28502317-C-T c.2407G>A p.Asp803Asn Missense 17/93 - 1
15-28502744-G-A c.2317-337C>T - IntronicSNV - 16/92 1
15-28508143-C-T c.2043G>A p.Trp681* Nonsense 15/93 - 1
15-28508144-C-T c.2042G>A p.Trp681* Nonsense 15/93 - 1
15-28508210-A-G c.1976T>C p.Val659Ala Missense 15/93 - 1
15-28510853-G-A c.1781C>T p.Pro594Leu Missense 14/93 - 7
15-28510895-G-A c.1757-18C>T - IntronicSNV - 13/92 3
15-28511016-GC-CT c.1702_1703delinsAG p.Ala568Ser Missense 13/93 - 1
15-28511997-C-T c.1599-877G>A - IntronicSNV - 12/92 3
15-28513364-T-C c.1598+247A>G - IntronicSNV - 12/92 49
15-28513364-T-G c.1598+247A>C - IntronicSNV - 12/92 49
15-28514281-T-A c.1446+113A>T - IntronicSNV - 11/92 5
15-28514281-T-C c.1446+113A>G - IntronicSNV - 11/92 5
15-28514521-AT-GC c.1318_1319delinsGC p.Ile440Ala Missense 11/93 - 1
15-28515892-AC-AA c.1205delinsT p.Arg402Leu Missense 10/93 - 1
15-28515955-T-A c.1143A>T p.Gln381His Missense 10/93 - 1
15-28515955-T-G c.1143A>C p.Gln381His Missense 10/93 - 1
15-28515976-CAG-TTT c.1120_1122delinsAAA p.Leu374Lys Missense 10/93 - 5
15-28516084-C-T c.1084-70G>A - IntronicSNV - 9/92 13
15-28517184-C-T c.1083+177G>A - IntronicSNV - 9/92 1
15-28517207-A-G c.1083+154T>C - IntronicSNV - 9/92 1
15-28517240-A-G c.1083+121T>C - IntronicSNV - 9/92 1
15-28517504-G-A c.940C>T p.Leu314Phe Missense 9/93 - 1
15-28517643-T-A c.912-111A>T - IntronicSNV - 8/92 1
15-28517643-T-C c.912-111A>G - IntronicSNV - 8/92 1
15-28517643-T-G c.912-111A>C - IntronicSNV - 8/92 1
15-28518046-G-A c.905C>T p.Thr302Met Missense 8/93 - 3
15-28518046-G-C c.905C>G p.Thr302Arg Missense 8/93 - 3
15-28518046-G-T c.905C>A p.Thr302Lys Missense 8/93 - 3
15-28518093-C-T c.858G>A p.Gln286Gln Synonymous 8/93 - 1
15-28518112-C-A c.839G>T p.Ser280Ile Missense 8/93 - 1
15-28518121-C-T c.830G>A p.Gly277Glu Missense 8/93 - 1
15-28518130-G-C c.821C>G p.Ala274Gly Missense 8/93 - 1
15-28518136-G-A c.815C>T p.Thr272Met Missense 8/93 - 1
15-28519524-GC-CT c.712_713delinsAG p.Ala238Ser Missense 7/93 - 1
15-28520107-C-G c.587G>C p.Gly196Ala Missense 6/93 - 1
15-28520113-C-A c.581G>T p.Arg194Ile Missense 6/93 - 1
15-28520506-A-G c.543-355T>C - IntronicSNV - 5/92 5
15-28522684-T-A c.542+2530A>T - IntronicSNV - 5/92 4
15-28522684-T-C c.542+2530A>G - IntronicSNV - 5/92 4
15-28525221-TT-T c.541del p.Ser181Valfs*85 Frameshift 5/93 - 1
15-28525325-A-G c.431T>C p.Leu144Pro Missense 5/93 - 1
15-28525392-C-T c.364G>A p.Glu122Lys Missense 5/93 - 1
15-28526228-G-A c.323-795C>T - IntronicSNV - 4/92 8
15-28529071-G-T c.323-3638C>A - IntronicSNV - 4/92 1
15-28530182-C-A c.323-4749G>T - IntronicSNV - 4/92 42
15-28530182-C-T c.323-4749G>A - IntronicSNV - 4/92 42
15-28530359-G-A c.323-4926C>T - IntronicSNV - 4/92 4
15-28532302-G-T c.322+5732C>A - IntronicSNV - 4/92 1
15-28532639-T-C c.322+5395A>G - IntronicSNV - 4/92 1
15-28533565-G-A c.322+4469C>T - IntronicSNV - 4/92 2
15-28533565-G-C c.322+4469C>G - IntronicSNV - 4/92 2
15-28533565-G-T c.322+4469C>A - IntronicSNV - 4/92 2
15-28535266-A-C c.322+2768T>G - IntronicSNV - 4/92 6
15-28535675-T-C c.322+2359A>G - IntronicSNV - 4/92 1
15-28536119-C-G c.322+1915G>C - IntronicSNV - 4/92 1
15-28537701-C-T c.322+333G>A - IntronicSNV - 4/92 1
15-28538123-T-C c.233A>G p.Asp78Gly Missense 4/93 - 1
15-28538126-TT-GC c.229_230delinsGC p.Asn77Ala Missense 4/93 - 1
15-28538162-C-G c.194G>C p.Ser65Thr Missense 4/93 - 1
15-28538165-T-A c.191A>T p.Asp64Val Missense 4/93 - 1
15-28538411-G-A c.188-243C>T - IntronicSNV - 3/92 1
15-28538411-G-C c.188-243C>G - IntronicSNV - 3/92 1
15-28538957-A-C c.188-789T>G - IntronicSNV - 3/92 1
15-28543879-G-A c.187+669C>T - IntronicSNV - 3/92 1
15-28543879-G-T c.187+669C>A - IntronicSNV - 3/92 1
15-28544571-T-A c.164A>T p.Asn55Ile Missense 3/93 - 1
15-28544579-TG-GG c.156delinsC p.Ser52Ser Missense 3/93 - 1
15-28544637-CA-GC c.97_98delinsGC p.Cys33Ala Missense 3/93 - 3
15-28545148-A-G c.73-486T>C - IntronicSNV - 2/92 1
15-28561049-G-A c.72+5459C>T - IntronicSNV - 2/92 1
15-28566537-C-T c.43G>A p.Asp15Asn Missense 2/93 - 1
15-28566548-T-A c.32A>T p.Gln11Leu Missense 2/93 - 1
15-28566548-T-C c.32A>G p.Gln11Arg Missense 2/93 - 1