AKAP3 A-kinase anchoring protein 3

Canonical transcript: NM_006422

21 unique variant annotations were identified in 19 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-4724999-G-A c.2468C>T p.Ser823Leu Missense 6/6 - 1
12-4725047-G-A c.2420C>T p.Ser807Leu Missense 6/6 - 1
12-4733056-T-G c.2406+2606A>C - IntronicSNV - 5/5 1
12-4735969-G-A c.2099C>T p.Ser700Phe Missense 5/6 - 1
12-4735970-A-G c.2098T>C p.Ser700Pro Missense 5/6 - 1
12-4735970-A-T c.2098T>A p.Ser700Thr Missense 5/6 - 1
12-4735970-GA-G c.2098del p.Ser700Leufs*7 Frameshift 5/6 - 1
12-4736086-A-G c.1982T>C p.Ile661Thr Missense 5/6 - 1
12-4736090-G-T c.1978C>A p.Gln660Lys Missense 5/6 - 1
12-4736859-AC-TG c.1208_1209delinsCA p.Ser403Thr Missense 5/6 - 1
12-4737151-A-G c.917T>C p.Ile306Thr Missense 5/6 - 1
12-4737364-G-A c.704C>T p.Pro235Leu Missense 5/6 - 1
12-4737459-C-T c.609G>A p.Ser203Ser Synonymous 5/6 - 1
12-4737715-C-T c.353G>A p.Gly118Glu Missense 5/6 - 1
12-4737736-G-A c.332C>T p.Pro111Leu Missense 5/6 - 1
12-4737906-TG-AC c.161_162delinsGT p.Ala54Gly Missense 5/6 - 1
12-4747334-CT-GC c.28_29delinsGC p.Ser10Ala Missense 4/6 - 1
12-4747570-T-C c.-245+37A>G - IntronicSNV - 1/5 1
12-4757355-T-G c.-245+578A>C - intron_variant - 1/5 1
12-4757474-G-A c.-245+459C>T - intron_variant - 1/5 1
12-4757474-G-T c.-245+459C>A - intron_variant - 1/5 1