INSIG2 insulin induced gene 2

Canonical transcript: NM_016133

30 unique variant annotations were identified in 37 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-118846885-T-C c.-139+768T>C - intron_variant - 1/5 2
2-118847841-G-A c.-139+1724G>A - intron_variant - 1/5 5
2-118847841-G-T c.-139+1724G>T - intron_variant - 1/5 5
2-118847895-G-C c.-139+1778G>C - intron_variant - 1/5 1
2-118849013-G-A c.-139+2896G>A - intron_variant - 1/5 2
2-118849013-G-C c.-139+2896G>C - intron_variant - 1/5 2
2-118849850-A-G c.-139+3733A>G - intron_variant - 1/5 8
2-118854199-A-T c.67A>T p.Ser23Cys Missense 2/6 - 1
2-118854215-T-G c.83T>G p.Leu28Trp Missense 2/6 - 1
2-118854221-T-C c.89T>C p.Ile30Thr Missense 2/6 - 1
2-118854368-C-T c.236C>T p.Thr79Met Missense 2/6 - 1
2-118854924-G-A c.244+548G>A - IntronicSNV - 2/5 1
2-118855807-C-T c.244+1431C>T - IntronicSNV - 2/5 1
2-118855927-G-A c.244+1551G>A - IntronicSNV - 2/5 1
2-118856156-G-A c.244+1780G>A - IntronicSNV - 2/5 2
2-118856914-A-C c.244+2538A>C - IntronicSNV - 2/5 7
2-118856914-A-G c.244+2538A>G - IntronicSNV - 2/5 7
2-118857649-T-A c.245-3124T>A - IntronicSNV - 2/5 1
2-118859556-G-A c.245-1217G>A - IntronicSNV - 2/5 3
2-118860471-C-T c.245-302C>T - IntronicSNV - 2/5 4
2-118861435-A-G c.369+538A>G - IntronicSNV - 3/5 3
2-118862464-T-G c.369+1567T>G - IntronicSNV - 3/5 2
2-118862492-T-C c.369+1595T>C - IntronicSNV - 3/5 8
2-118863770-G-A c.370-543G>A - IntronicSNV - 3/5 2
2-118863874-C-A c.370-439C>A - IntronicSNV - 3/5 9
2-118863874-C-G c.370-439C>G - IntronicSNV - 3/5 9
2-118863874-C-T c.370-439C>T - IntronicSNV - 3/5 9
2-118864319-G-A c.376G>A p.Asp126Asn Missense 4/6 - 1
2-118865814-G-A c.637-43G>A - IntronicSNV - 5/5 1
2-118866000-G-C c.*102G>C - 3-UTRSNV 6/6 - 1