AKAP11 A-kinase anchoring protein 11

Canonical transcript: NM_016248

81 unique variant annotations were identified in 30 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-42846438-G-A c.-100+74G>A - intron_variant - 1/12 1
13-42848799-C-A c.-100+2435C>A - intron_variant - 1/12 1
13-42848799-C-T c.-100+2435C>T - intron_variant - 1/12 1
13-42849505-A-G c.-100+3141A>G - intron_variant - 1/12 2
13-42851271-A-G c.-100+4907A>G - intron_variant - 1/12 1
13-42852989-C-T c.-100+6625C>T - intron_variant - 1/12 1
13-42855693-G-C c.-99-4693G>C - IntronicSNV - 1/12 1
13-42855868-C-A c.-99-4518C>A - IntronicSNV - 1/12 1
13-42855868-C-T c.-99-4518C>T - IntronicSNV - 1/12 1
13-42857280-C-T c.-99-2842C>T - intron_variant - 1/12 2
13-42857836-G-A c.-99-2550G>A - IntronicSNV - 1/12 1
13-42858428-A-G c.-99-1958A>G - IntronicSNV - 1/12 1
13-42860205-A-G c.-99-181A>G - IntronicSNV - 1/12 1
13-42860205-A-T c.-99-181A>T - IntronicSNV - 1/12 1
13-42860533-AA-GC c.49_50delinsGC p.Lys17Ala Missense 3/13 - 1
13-42861764-T-TT c.51+1229dup - IntronicInsertion - 3/12 1
13-42861772-A-C c.51+1237A>C - IntronicSNV - 3/12 1
13-42862423-C-T c.51+1888C>T - IntronicSNV - 3/12 2
13-42863634-T-G c.52-2887T>G - IntronicSNV - 3/12 1
13-42865197-C-G c.52-1324C>G - IntronicSNV - 3/12 1
13-42866183-G-A c.52-338G>A - IntronicSNV - 3/12 1
13-42866183-G-T c.52-338G>T - IntronicSNV - 3/12 1
13-42866795-A-G c.168+158A>G - IntronicSNV - 4/12 1
13-42867117-A-G c.168+480A>G - IntronicSNV - 4/12 1
13-42867954-A-G c.168+1317A>G - IntronicSNV - 4/12 1
13-42869119-A-C c.169-712A>C - IntronicSNV - 4/12 2
13-42869119-A-G c.169-712A>G - IntronicSNV - 4/12 2
13-42870010-C-T c.216+132C>T - IntronicSNV - 5/12 1
13-42870531-A-G c.216+653A>G - IntronicSNV - 5/12 2
13-42870531-A-T c.216+653A>T - IntronicSNV - 5/12 2
13-42870803-A-G c.217-381A>G - IntronicSNV - 5/12 1
13-42870973-G-A c.217-211G>A - IntronicSNV - 5/12 1
13-42871503-G-C c.351+185G>C - IntronicSNV - 6/12 1
13-42872325-A-G c.352-344A>G - IntronicSNV - 6/12 1
13-42872716-A-G c.399A>G p.Ser133Ser Synonymous 7/13 - 1
13-42872719-A-G c.402A>G p.Pro134Pro Synonymous 7/13 - 1
13-42872779-C-T c.462C>T p.Tyr154Tyr Synonymous 7/13 - 1
13-42873782-G-A c.900G>A p.Ser300Ser Synonymous 8/13 - 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
13-42875089-C-T c.2207C>T p.Ser736Leu 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
13-42875587-A-G c.2705A>G p.Glu902Gly Missense 8/13 - 1
13-42875589-C-T c.2707C>T p.Arg903Cys Missense 8/13 - 1
13-42875683-A-G c.2801A>G p.Asn934Ser Missense 8/13 - 1
13-42875721-A-G c.2839A>G p.Ile947Val Missense 8/13 - 1
13-42876091-A-G c.3209A>G p.His1070Arg Missense 8/13 - 2
13-42876127-G-A c.3245G>A p.Gly1082Asp Missense 8/13 - 1
13-42876127-G-T c.3245G>T p.Gly1082Val Missense 8/13 - 1
13-42876190-C-T c.3308C>T p.Ser1103Leu Missense 8/13 - 1
13-42876666-G-C c.3784G>C p.Asp1262His Missense 8/13 - 1
13-42876666-G-T c.3784G>T p.Asp1262Tyr Missense 8/13 - 1
13-42877265-G-C c.4383G>C p.Leu1461Leu Synonymous 8/13 - 1
13-42877265-G-T c.4383G>T p.Leu1461Leu Synonymous 8/13 - 1
13-42877846-T-C c.4964T>C p.Val1655Ala Missense 8/13 - 1
13-42879230-G-A c.5117+1231G>A - IntronicSNV - 8/12 1
13-42879230-G-C c.5117+1231G>C - IntronicSNV - 8/12 1
13-42879577-G-T c.5117+1578G>T - IntronicSNV - 8/12 1
13-42880055-G-A c.5117+2056G>A - IntronicSNV - 8/12 1
13-42881801-G-T c.5118-789G>T - IntronicSNV - 8/12 1
13-42882620-C-T c.5148C>T p.Thr1716Thr Synonymous 9/13 - 2
13-42882762-A-G c.5273+17A>G - IntronicSNV - 9/12 1
13-42883145-A-G c.5273+400A>G - IntronicSNV - 9/12 1
13-42883145-A-T c.5273+400A>T - IntronicSNV - 9/12 1
13-42883810-G-A c.5273+1065G>A - IntronicSNV - 9/12 1
13-42886868-A-G c.5274-315A>G - IntronicSNV - 9/12 1
13-42890109-G-T c.5405-1555G>T - IntronicSNV - 11/12 1
13-42891044-A-G c.5405-620A>G - IntronicSNV - 11/12 1
13-42891170-C-T c.5405-494C>T - IntronicSNV - 11/12 1
13-42891396-G-A c.5405-268G>A - IntronicSNV - 11/12 1
13-42893986-C-A c.*622C>A - 3-UTRSNV 13/13 - 1
13-42893986-C-T c.*622C>T - 3-UTRSNV 13/13 - 1
13-42894287-A-T c.*923A>T - 3-UTRSNV 13/13 - 1
13-42894368-A-G c.*1004A>G - 3-UTRSNV 13/13 - 1
13-42894368-A-T c.*1004A>T - 3-UTRSNV 13/13 - 1
13-42894395-G-A c.*1031G>A - 3-UTRSNV 13/13 - 1
13-42894409-G-T c.*1045G>T - 3-UTRSNV 13/13 - 1
13-42895728-T-G c.*2364T>G - 3-UTRSNV 13/13 - 1
13-42895992-G-A c.*2628G>A - 3-UTRSNV 13/13 - 1
13-42896099-T-C c.*2735T>C - 3-UTRSNV 13/13 - 2