AKAP5 A-kinase anchoring protein 5

Canonical transcript: NM_004857

59 unique variant annotations were identified in 42 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-64933355-C-T c.-264+1024C>T - intron_variant - 1/1 2
14-64935148-C-G c.36C>G p.Asn12Lys Missense 2/2 - 1
14-64935218-T-A c.106T>A p.Cys36Ser Missense 2/2 - 5
14-64935219-G-C c.107G>C p.Cys36Ser Missense 2/2 - 5
14-64935296-T-A c.184T>A p.Cys62Ser Missense 2/2 - 2
14-64935296-T-G c.184T>G p.Cys62Gly Missense 2/2 - 1
14-64935297-G-C c.185G>C p.Cys62Ser Missense 2/2 - 2
14-64935347-TGG-AAC c.235_237delinsAAC p.Trp79Asn Missense 2/2 - 1
14-64935347-TG-GC c.235_236delinsGC p.Trp79Ala Missense 2/2 - 1
14-64935353-TCA-GAC c.241_243delinsGAC p.Ser81Asp Missense 2/2 - 1
14-64935353-T-G c.241T>G p.Ser81Ala Missense 2/2 - 1
14-64935356-CT-GC c.244_245delinsGC p.Leu82Ala Missense 2/2 - 1
14-64935357-T-C c.245T>C p.Leu82Pro Missense 2/2 - 1
14-64935365-CT-GC c.253_254delinsGC p.Leu85Ala Missense 2/2 - 1
14-64935369-T-C c.257T>C p.Val86Ala Missense 2/2 - 1
14-64935371-ACA-GAC c.259_261delinsGAC p.Thr87Asp Missense 2/2 - 1
14-64935371-AC-GA c.259_260delinsGA p.Thr87Glu Missense 2/2 - 1
14-64935371-A-G c.259A>G p.Thr87Ala Missense 2/2 - 1
14-64935386-TCA-GAC c.274_276delinsGAC p.Ser92Asp Missense 2/2 - 1
14-64935386-T-G c.274T>G p.Ser92Ala Missense 2/2 - 1
14-64935392-TC-GA c.280_281inv p.Ser94Asp Missense 2/2 - 1
14-64935392-T-G c.280T>G p.Ser94Ala Missense 2/2 - 1
14-64935395-TCA-GAC c.283_285delinsGAC p.Ser95Asp Missense 2/2 - 1
14-64935395-T-G c.283T>G p.Ser95Ala Missense 2/2 - 1
14-64935411-C-T c.299C>T p.Pro100Leu Missense 2/2 - 11
14-64935413-TT-GC c.301_302delinsGC p.Leu101Ala Missense 2/2 - 1
14-64935461-TC-GA c.349_350inv p.Ser117Asp Missense 2/2 - 1
14-64935461-T-G c.349T>G p.Ser117Ala Missense 2/2 - 1
14-64935479-T-G c.367T>G p.Ser123Ala Missense 2/2 - 1
14-64935497-T-A c.385T>A p.Cys129Ser Missense 2/2 - 3
14-64935498-G-C c.386G>C p.Cys129Ser Missense 2/2 - 3
14-64935527-AG-GC c.415_416delinsGC p.Ser139Ala Missense 2/2 - 1
14-64935536-TC-GA c.424_425inv p.Ser142Asp Missense 2/2 - 2
14-64935536-T-G c.424T>G p.Ser142Ala Missense 2/2 - 2
14-64935560-T-A c.448T>A p.Cys150Ser Missense 2/2 - 1
14-64935561-G-C c.449G>C p.Cys150Ser Missense 2/2 - 1
14-64935644-T-G c.532T>G p.Ser178Ala Missense 2/2 - 1
14-64935675-G-A c.563G>A p.Arg188Gln Missense 2/2 - 1
14-64935720-C-T c.608C>T p.Thr203Ile Missense 2/2 - 1
14-64935726-C-G c.614C>G p.Ser205Cys Missense 2/2 - 1
14-64935726-C-T c.614C>T p.Ser205Phe Missense 2/2 - 1
14-64935761-G-A c.649G>A p.Asp217Asn Missense 2/2 - 1
14-64935776-G-C c.664G>C p.Ala222Pro Missense 2/2 - 1
14-64936046-AG-GA c.934_935delinsGA p.Ser312Asp Missense 2/2 - 2
14-64936046-AG-GC c.934_935delinsGC p.Ser312Ala Missense 2/2 - 3
14-64936052-G-A c.940G>A p.Glu314Lys Missense 2/2 - 1
14-64936091-T-C c.979T>C p.Ser327Pro Missense 2/2 - 1
14-64936095-A-G c.983A>G p.Lys328Arg Missense 2/2 - 1
14-64936121-C-G c.1009C>G p.Pro337Ala Missense 2/2 - 1
14-64936124-AT-CC c.1012_1013delinsCC p.Ile338Pro Missense 2/2 - 1
14-64936124-AT-GC c.1012_1013delinsGC p.Ile338Ala Missense 2/2 - 1
14-64936128-C-T c.1016C>T p.Ala339Val Missense 2/2 - 1
14-64936139-A-G c.1027A>G p.Thr343Ala Missense 2/2 - 1
14-64936284-T-C c.1172T>C p.Leu391Pro Missense 2/2 - 1
14-64936286-TT-CC c.1174_1175delinsCC p.Leu392Pro Missense 2/2 - 1
14-64936295-A-C c.1183A>C p.Thr395Pro Missense 2/2 - 2
14-64936298-G-C c.1186G>C p.Ala396Pro Missense 2/2 - 1
14-64936322-AT-CC c.1210_1211delinsCC p.Ile404Pro Missense 2/2 - 1
14-64936652-T-C c.*256T>C - 3-UTRSNV 2/2 - 5