AKAP11 A-kinase anchoring protein 11

Canonical transcript: NM_016248

11 unique variant annotations were identified in 7 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-42857280-C-T c.-99-2842C>T - intron_variant - 1/12 1
13-42860533-AA-GC c.49_50delinsGC p.Lys17Ala Missense 3/13 - 1
13-42862423-C-T c.51+1888C>T - IntronicSNV - 3/12 1
13-42865197-C-G c.52-1324C>G - IntronicSNV - 3/12 1
13-42870531-A-G c.216+653A>G - IntronicSNV - 5/12 1
13-42870531-A-T c.216+653A>T - IntronicSNV - 5/12 1
13-42874386-TCA-GAC c.1504_1506delinsGAC p.Ser502Asp Missense 8/13 - 1
13-42874809-GTT-TGG c.1927_1929delinsTGG p.Val643Trp Missense 8/13 - 1
13-42875448-G-A c.2566G>A p.Asp856Asn Missense 8/13 - 1
13-42875512-C-T c.2630C>T p.Ala877Val Missense 8/13 - 1
13-42882620-C-T c.5148C>T p.Thr1716Thr Synonymous 9/13 - 1