GCKR glucokinase regulator

Canonical transcript: NM_001486

101 unique variant annotations were identified in 356 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-27719795-A-AAGGTTT c.24_25insAGGTTT p.Gln8_His9insArgPhe InFrameInsertion 1/19 - 2
2-27719812-C-T c.41C>T p.Pro14Leu Missense 1/19 - 1
2-27719820-G-C c.49G>C p.Gly17Arg Missense 1/19 - 1
2-27719821-GC-AG c.50_51delinsAG p.Gly17Glu Missense 1/19 - 6
2-27720160-T-A c.110T>A p.Leu37Gln Missense 2/19 - 2
2-27720201-C-G c.151C>G p.Arg51Gly Missense 2/19 - 2
2-27720202-G-A c.152G>A p.Arg51Gln Missense 2/19 - 3
2-27720218-T-C c.168T>C p.Cys56Cys Synonymous 2/19 - 1
2-27720385-C-T c.217-44C>T - IntronicSNV - 2/18 1
2-27720442-A-G c.230A>G p.Glu77Gly Missense 3/19 - 8
2-27720471-GC-TG c.259_260delinsTG p.Ala87Cys Missense 3/19 - 1
2-27720483-C-A c.271C>A p.Gln91Lys Missense 3/19 - 1
2-27721143-G-A c.307G>A p.Val103Met Missense 4/19 - 6
2-27721143-G-T c.307G>T p.Val103Leu Missense 4/19 - 2
2-27721150-G-A c.314G>A p.Ser105Asn Missense 4/19 - 1
2-27721171-G-A c.335G>A p.Arg112Gln Missense 4/19 - 1
2-27721190-G-A c.354G>A p.Ser118Ser Synonymous 4/19 - 1
2-27721190-G-T c.354G>T p.Ser118Ser Synonymous 4/19 - 1
2-27721594-TCC-GAG c.358_360delinsGAG p.Ser120Glu Missense 5/19 - 1
2-27721621-G-A c.385G>A p.Gly129Arg Missense 5/19 - 1
2-27721621-G-C c.385G>C p.Gly129Arg Missense 5/19 - 1
2-27721631-C-G c.395C>G p.Pro132Arg Missense 5/19 - 1
2-27721631-C-T c.395C>T p.Pro132Leu Missense 5/19 - 1
2-27721971-T-C c.429-38T>C - IntronicSNV - 5/18 8
2-27722316-TCT-T c.548_549del p.Ser183Cysfs*34 SpliceDonorDeletion 7/19 - 2
2-27722416-G-A c.549+99G>A - IntronicSNV - 7/18 9
2-27724663-A-G c.644+567A>G - IntronicSNV - 8/18 1
2-27725572-C-A c.645-809C>A - IntronicSNV - 8/18 2
2-27725761-C-T c.645-620C>T - IntronicSNV - 8/18 4
2-27726391-A-G c.655A>G p.Ile219Val Missense 9/19 - 1
2-27726415-C-T c.679C>T p.Arg227* Nonsense 9/19 - 4
2-27726416-G-A c.680G>A p.Arg227Gln Missense 9/19 - 2
2-27726431-G-A c.695G>A p.Arg232Gln Missense 9/19 - 1
2-27726437-A-C c.701A>C p.Gln234Pro Missense 9/19 - 7
2-27728588-G-A c.754G>A p.Glu252Lys Missense 10/19 - 1
2-27728609-C-G c.775C>G p.Arg259Gly Missense 10/19 - 1
2-27728609-C-T c.775C>T p.Arg259Trp Missense 10/19 - 1
2-27728666-C-G c.832C>G p.His278Asp Missense 10/19 - 1
2-27728777-C-G c.869+74C>G - IntronicSNV - 10/18 10
2-27729368-G-A c.890G>A p.Arg297Gln Missense 11/19 - 1
2-27729379-C-G c.901C>G p.Arg301Gly Missense 11/19 - 1
2-27729379-C-T c.901C>T p.Arg301* Nonsense 11/19 - 1
2-27729397-T-G c.919T>G p.Tyr307Asp Missense 11/19 - 1
2-27729416-TT-AG c.938_939delinsAG p.Ile313Lys Missense 11/19 - 1
2-27729480-G-A c.968+34G>A - IntronicSNV - 11/18 11
2-27729718-G-A c.1032G>A p.Met344Ile Missense 12/19 - 2
2-27729718-G-C c.1032G>C p.Met344Ile Missense 12/19 - 2
2-27729718-G-T c.1032G>T p.Met344Ile Missense 12/19 - 2
2-27729720-A-T c.1034A>T p.Asp345Val Missense 12/19 - 1
2-27730107-C-T c.1072C>T p.Arg358* Nonsense 13/19 - 1
2-27730170-A-AA c.1135dup p.Thr379Asnfs*36 Frameshift 13/19 - 2
2-27730551-C-A c.1147C>A p.Pro383Thr Missense 14/19 - 1
2-27730591-T-A c.1187T>A p.Ile396Asn Missense 14/19 - 1
2-27730817-G-A c.1241-27G>A - IntronicSNV - 14/18 5
2-27730834-C-T c.1241-10C>T - IntronicSNV - 14/18 1
2-27730845-C-A c.1242C>A p.Asp414Glu Missense 15/19 - 2
2-27730845-C-G c.1242C>G p.Asp414Glu Missense 15/19 - 2
2-27730915-C-T c.1312C>T p.His438Tyr Missense 15/19 - 2
2-27730936-TT-CC c.1333_1334delinsCC p.Leu445Pro Missense 15/19 - 1
2-27730940-T-C c.1337T>C p.Leu446Pro Missense 15/19 - 646
2-27730940-T-G c.1337T>G p.Leu446Arg Missense 15/19 - 619
2-27731054-T-G c.1358T>G p.Phe453Cys Missense 16/19 - 1
2-27731212-T-C c.1422+94T>C - IntronicSNV - 16/18 17
2-27732845-G-A c.1422+1727G>A - IntronicSNV - 16/18 1
2-27732845-G-T c.1422+1727G>T - IntronicSNV - 16/18 1
2-27733452-G-A c.1422+2334G>A - IntronicSNV - 16/18 6
2-27733452-G-T c.1422+2334G>T - IntronicSNV - 16/18 6
2-27734972-G-A c.1422+3854G>A - IntronicSNV - 16/18 12
2-27735033-G-A c.1422+3915G>A - IntronicSNV - 16/18 2
2-27739599-A-C c.1423-2056A>C - IntronicSNV - 16/18 1
2-27740328-C-T c.1423-1327C>T - IntronicSNV - 16/18 1
2-27741072-C-A c.1423-583C>A - IntronicSNV - 16/18 11
2-27741072-C-G c.1423-583C>G - IntronicSNV - 16/18 11
2-27741105-A-G c.1423-550A>G - IntronicSNV - 16/18 12
2-27741237-T-C c.1423-418T>C - IntronicSNV - 16/18 600
2-27741665-G-A c.1433G>A p.Arg478His Missense 17/19 - 1
2-27741731-T-G c.1499T>G p.Ile500Ser Missense 17/19 - 1
2-27741783-G-T c.1551G>T p.Trp517Cys Missense 17/19 - 2
2-27741784-C-T c.1552C>T p.Arg518Trp Missense 17/19 - 1
2-27741787-G-A c.1555G>A p.Ala519Thr Missense 17/19 - 2
2-27742603-T-C c.1572+799T>C - IntronicSNV - 17/18 134
2-27743154-A-G c.1572+1350A>G - IntronicSNV - 17/18 35
2-27743215-A-G c.1572+1411A>G - IntronicSNV - 17/18 13
2-27743423-G-A c.1572+1619G>A - IntronicSNV - 17/18 11
2-27744089-A-G c.1573-1238A>G - IntronicSNV - 17/18 1
2-27745334-C-G c.1580C>G p.Ser527Cys Missense 18/19 - 1
2-27745361-A-G c.1607A>G p.Glu536Gly Missense 18/19 - 1
2-27745372-C-T c.1618C>T p.Arg540* Nonsense 18/19 - 5
2-27745373-G-A c.1619G>A p.Arg540Gln Missense 18/19 - 3
2-27745411-C-T c.1657C>T p.Arg553Trp Missense 18/19 - 1
2-27746184-G-T c.1756G>T p.Glu586* Nonsense 19/19 - 1
2-27746196-C-T c.1768C>T p.His590Tyr Missense 19/19 - 2
2-27746232-A-T c.1804A>T p.Arg602Trp Missense 19/19 - 1
2-27746248-G-A c.1820G>A p.Gly607Glu Missense 19/19 - 1
2-27746248-G-T c.1820G>T p.Gly607Val Missense 19/19 - 1
2-27746250-C-G c.1822C>G p.Pro608Ala Missense 19/19 - 1
2-27746254-G-C c.1826G>C p.Gly609Ala Missense 19/19 - 1
2-27746256-CA-GC c.1828_1829delinsGC p.Gln610Ala Missense 19/19 - 1
2-27746257-A-G c.1829A>G p.Gln610Arg Missense 19/19 - 1
2-27746259-AA-GC c.1831_1832delinsGC p.Lys611Ala Missense 19/19 - 1
2-27746262-C-T c.1834C>T p.Arg612Cys Missense 19/19 - 1