AKAP9 A-kinase anchoring protein 9

Canonical transcript: NM_005751

271 unique variant annotations were identified in 219 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-91570422-C-T c.9C>T p.Asp3Asp Synonymous 1/50 - 1
7-91570442-T-C c.29T>C p.Leu10Pro Missense 1/50 - 1
7-91570447-G-A c.34G>A p.Ala12Thr Missense 1/50 - 1
7-91575417-C-T c.48+4956C>T - IntronicSNV - 1/49 1
7-91580490-A-G c.48+10029A>G - IntronicSNV - 1/49 2
7-91580490-A-T c.48+10029A>T - IntronicSNV - 1/49 2
7-91580571-A-G c.48+10110A>G - IntronicSNV - 1/49 5
7-91580571-A-T c.48+10110A>T - IntronicSNV - 1/49 5
7-91581121-C-A c.48+10660C>A - IntronicSNV - 1/49 1
7-91581503-C-T c.48+11042C>T - IntronicSNV - 1/49 3
7-91583334-C-G c.48+12873C>G - IntronicSNV - 1/49 1
7-91583334-C-T c.48+12873C>T - IntronicSNV - 1/49 1
7-91586389-A-G c.48+15928A>G - IntronicSNV - 1/49 1
7-91586389-A-T c.48+15928A>T - IntronicSNV - 1/49 1
7-91590199-A-G c.49-12826A>G - IntronicSNV - 1/49 1
7-91591230-G-A c.49-11795G>A - IntronicSNV - 1/49 1
7-91603004-G-A c.49-21G>A - IntronicSNV - 1/49 1
7-91603004-G-T c.49-21G>T - IntronicSNV - 1/49 1
7-91603050-C-T c.74C>T p.Ala25Val Missense 2/50 - 1
7-91603089-AA-TG c.113_114delinsTG p.Lys38Met Missense 2/50 - 2
7-91603089-A-G c.113A>G p.Lys38Arg Missense 2/50 - 2
7-91603100-A-G c.124A>G p.Thr42Ala Missense 2/50 - 1
7-91603115-C-T c.139C>T p.His47Tyr Missense 2/50 - 3
7-91603148-G-A c.172G>A p.Asp58Asn Missense 2/50 - 1
7-91603218-CT-AA c.242_243delinsAA p.Ser81* Nonsense 2/50 - 1
7-91603229-A-T c.253A>T p.Arg85* Nonsense 2/50 - 1
7-91603271-T-C c.295T>C p.Phe99Leu Missense 2/50 - 1
7-91603273-C-A c.297C>A p.Phe99Leu Missense 2/50 - 1
7-91603273-C-G c.297C>G p.Phe99Leu Missense 2/50 - 1
7-91603274-T-C c.298T>C p.Ser100Pro Missense 2/50 - 1
7-91603280-G-T c.304G>T p.Glu102* Nonsense 2/50 - 1
7-91606944-G-A c.307-2659G>A - IntronicSNV - 2/49 3
7-91609609-A-G c.313A>G p.Ser105Gly Missense 3/50 - 1
7-91609645-G-C c.349G>C p.Glu117Gln Missense 3/50 - 1
7-91617091-C-G c.352-4381C>G - IntronicSNV - 3/49 3
7-91620096-G-A c.352-1376G>A - IntronicSNV - 3/49 2
7-91621472-GTA-ATG c.352_354delinsATG p.Val118Met Missense 4/50 - 1
7-91622236-A-G c.443A>G p.Gln148Arg Missense 5/50 - 1
7-91622250-AG-GC c.457_458delinsGC p.Ser153Ala Missense 5/50 - 1
7-91622257-C-A c.464C>A p.Thr155Asn Missense 5/50 - 1
7-91622303-G-C c.510G>C p.Glu170Asp Missense 5/50 - 1
7-91622337-AGG-CAT c.544_546delinsCAT p.Arg182His Missense 5/50 - 1
7-91622340-G-A c.547G>A p.Val183Ile Missense 5/50 - 1
7-91622346-T-G c.553T>G p.Tyr185Asp Missense 5/50 - 1
7-91622352-A-G c.559A>G p.Thr187Ala Missense 5/50 - 1
7-91623968-G-A c.610G>A p.Asp204Asn Missense 6/50 - 1
7-91623984-A-T c.626A>T p.Gln209Leu Missense 6/50 - 1
7-91624010-AG-CA c.652_653delinsCA p.Arg218Gln Missense 6/50 - 1
7-91624032-T-C c.674T>C p.Met225Thr Missense 6/50 - 1
7-91624926-AG-TT c.742_743delinsTT p.Ser248Phe Missense 7/50 - 1
7-91624975-T-C c.791T>C p.Leu264Pro Missense 7/50 - 1
7-91624998-A-G c.814A>G p.Thr272Ala Missense 7/50 - 1
7-91624999-C-G c.815C>G p.Thr272Ser Missense 7/50 - 1
7-91626953-A-G c.930+1839A>G - IntronicSNV - 7/49 1
7-91630205-CA-C c.974del p.Gln325Argfs*10 Frameshift 8/50 - 1
7-91630253-A-T c.1022A>T p.Glu341Val Missense 8/50 - 1
7-91630294-G-T c.1063G>T p.Ala355Ser Missense 8/50 - 1
7-91630298-A-T c.1067A>T p.Asp356Val Missense 8/50 - 1
7-91630327-A-G c.1096A>G p.Ile366Val Missense 8/50 - 1
7-91630359-G-A c.1128G>A p.Met376Ile Missense 8/50 - 1
7-91630359-G-C c.1128G>C p.Met376Ile Missense 8/50 - 1
7-91630359-G-T c.1128G>T p.Met376Ile Missense 8/50 - 1
7-91630470-G-C c.1239G>C p.Gln413His Missense 8/50 - 1
7-91630474-G-C c.1243G>C p.Glu415Gln Missense 8/50 - 1
7-91630490-A-G c.1259A>G p.Gln420Arg Missense 8/50 - 1
7-91630493-G-A c.1262G>A p.Arg421Gln Missense 8/50 - 1
7-91630531-C-T c.1300C>T p.Arg434Trp Missense 8/50 - 2
7-91630603-G-C c.1372G>C p.Ala458Pro Missense 8/50 - 1
7-91630620-G-T c.1389G>T p.Met463Ile Missense 8/50 - 35
7-91630628-G-A c.1397G>A p.Arg466Gln Missense 8/50 - 2
7-91630694-T-A c.1463T>A p.Ile488Lys Missense 8/50 - 1
7-91630828-C-G c.1597C>G p.Leu533Val Missense 8/50 - 1
7-91630873-A-G c.1642A>G p.Arg548Gly Missense 8/50 - 2
7-91630917-T-G c.1686T>G p.His562Gln Missense 8/50 - 2
7-91630927-AG-TT c.1696_1697delinsTT p.Ser566Phe Missense 8/50 - 1
7-91631082-A-AT c.1851_1852insT p.Gln618Serfs*4 Frameshift 8/50 - 1
7-91631131-G-A c.1900G>A p.Glu634Lys Missense 8/50 - 1
7-91631155-G-A c.1924G>A p.Glu642Lys Missense 8/50 - 1
7-91631206-T-A c.1975T>A p.Leu659Ile Missense 8/50 - 1
7-91631344-T-G c.2113T>G p.Leu705Val Missense 8/50 - 1
7-91631461-G-A c.2230G>A p.Glu744Lys Missense 8/50 - 1
7-91631497-G-A c.2266G>A p.Glu756Lys Missense 8/50 - 1
7-91631526-T-A c.2295T>A p.Asp765Glu Missense 8/50 - 2
7-91631556-A-C c.2325A>C p.Ala775Ala Synonymous 8/50 - 1
7-91631556-A-G c.2325A>G p.Ala775Ala Synonymous 8/50 - 1
7-91631556-A-T c.2325A>T p.Ala775Ala Synonymous 8/50 - 1
7-91631709-A-G c.2478A>G p.Ile826Met Missense 8/50 - 1
7-91631849-A-C c.2618A>C p.Lys873Thr Missense 8/50 - 1
7-91631849-A-G c.2618A>G p.Lys873Arg Missense 8/50 - 2
7-91631983-G-T c.2752G>T p.Asp918Tyr Missense 8/50 - 1
7-91632058-G-T c.2827G>T p.Glu943* Nonsense 8/50 - 1
7-91632065-T-G c.2834T>G p.Leu945Arg Missense 8/50 - 1
7-91632085-A-G c.2854A>G p.Lys952Glu Missense 8/50 - 1
7-91632306-C-G c.3075C>G p.Thr1025Thr Synonymous 8/50 - 6
7-91632306-C-T c.3075C>T p.Thr1025Thr Synonymous 8/50 - 6
7-91632533-T-C c.3302T>C p.Val1101Ala Missense 8/50 - 1
7-91641812-C-G c.3388C>G p.Gln1130Glu Missense 9/50 - 1
7-91641928-A-G c.3504A>G p.Glu1168Glu Synonymous 9/50 - 1
7-91643603-T-A c.3573T>A p.Leu1191Leu Synonymous 10/50 - 1
7-91643603-T-C c.3573T>C p.Leu1191Leu Synonymous 10/50 - 1
7-91643603-T-G c.3573T>G p.Leu1191Leu Synonymous 10/50 - 1
7-91643610-G-A c.3580G>A p.Ala1194Thr Missense 10/50 - 2
7-91645566-A-G c.3736A>G p.Arg1246Gly Missense 11/50 - 1
7-91646406-G-A c.3827G>A p.Arg1276Gln Missense 12/50 - 6
7-91651563-G-C c.3849G>C p.Gln1283His Missense 13/50 - 1
7-91651563-G-T c.3849G>T p.Gln1283His Missense 13/50 - 1
7-91652179-AAC-AACAAC c.4004_4006dup p.Lys1335_Leu1336insGln InFrameInsertion 14/50 - 5
7-91652238-A-C c.4063A>C p.Lys1355Gln Missense 14/50 - 1
7-91657672-G-A c.4149-1537G>A - IntronicSNV - 14/49 2
7-91657672-G-T c.4149-1537G>T - IntronicSNV - 14/49 2
7-91657953-A-C c.4149-1256A>C - IntronicSNV - 14/49 1
7-91659259-T-C c.4199T>C p.Met1400Thr Missense 15/50 - 2
7-91660053-A-G c.4245+748A>G - IntronicSNV - 15/49 1
7-91660854-A-G c.4274A>G p.Glu1425Gly Missense 16/50 - 5
7-91663031-C-T c.4338+2113C>T - IntronicSNV - 16/49 1
7-91666369-C-G c.4339-1364C>G - IntronicSNV - 16/49 2
7-91666369-C-T c.4339-1364C>T - IntronicSNV - 16/49 2
7-91666661-A-C c.4339-1072A>C - IntronicSNV - 16/49 2
7-91667736-A-G c.4342A>G p.Ile1448Val Missense 17/50 - 1
7-91667913-G-C c.4519G>C p.Asp1507His Missense 17/50 - 1
7-91667998-C-G c.4604C>G p.Pro1535Arg Missense 17/50 - 1
7-91668024-T-A c.4630T>A p.Cys1544Ser Missense 17/50 - 1
7-91668025-G-C c.4631G>C p.Cys1544Ser Missense 17/50 - 1
7-91669808-G-A c.4693-180G>A - IntronicSNV - 17/49 1
7-91670002-T-G c.4707T>G p.Ile1569Met Missense 18/50 - 1
7-91670003-TC-AA c.4708_4709delinsAA p.Ser1570Lys Missense 18/50 - 1
7-91670004-C-T c.4709C>T p.Ser1570Leu Missense 18/50 - 19
7-91670078-G-C c.4783G>C p.Val1595Leu Missense 18/50 - 1
7-91670078-G-T c.4783G>T p.Val1595Leu Missense 18/50 - 1
7-91670121-G-A c.4826G>A p.Arg1609Lys Missense 18/50 - 2
7-91670136-G-A c.4841G>A p.Arg1614Gln Missense 18/50 - 1
7-91670136-G-C c.4841G>C p.Arg1614Pro Missense 18/50 - 1
7-91671369-A-C c.4927A>C p.Ile1643Leu Missense 19/50 - 1
7-91671369-A-G c.4927A>G p.Ile1643Val Missense 19/50 - 1
7-91671436-A-T c.4994A>T p.Gln1665Leu Missense 19/50 - 1
7-91671452-GAAGA-G c.5010_5013del p.Glu1672Serfs*33 Frameshift 19/50 - 1
7-91671490-C-T c.5048C>T p.Thr1683Met Missense 19/50 - 1
7-91672003-G-A c.5080G>A p.Glu1694Lys Missense 20/50 - 1
7-91672007-T-C c.5084T>C p.Val1695Ala Missense 20/50 - 1
7-91674405-T-C c.5246T>C p.Ile1749Thr Missense 21/50 - 2
7-91674450-A-G c.5291A>G p.Gln1764Arg Missense 21/50 - 1
7-91674500-T-A c.5341T>A p.Ser1781Thr Missense 21/50 - 2
7-91682040-T-G c.5369T>G p.Val1790Gly Missense 22/50 - 3
7-91682267-A-C c.5596A>C p.Ser1866Arg Missense 22/50 - 1
7-91682269-T-A c.5598T>A p.Ser1866Arg Missense 22/50 - 1
7-91682269-T-G c.5598T>G p.Ser1866Arg Missense 22/50 - 1
7-91684086-A-G c.5601+1814A>G - IntronicSNV - 22/49 2
7-91687685-T-G c.5602-2889T>G - IntronicSNV - 22/49 1
7-91690611-G-A c.5639G>A p.Arg1880His Missense 23/50 - 1
7-91690611-G-C c.5639G>C p.Arg1880Pro Missense 23/50 - 1
7-91690697-G-A c.5725G>A p.Ala1909Thr Missense 23/50 - 2
7-91691070-G-A c.5764+334G>A - IntronicSNV - 23/49 2
7-91691070-G-T c.5764+334G>T - IntronicSNV - 23/49 2
7-91691601-C-T c.5778C>T p.Gly1926Gly Synonymous 24/50 - 1
7-91691629-A-T c.5806A>T p.Arg1936Trp Missense 24/50 - 1
7-91691734-G-T c.5911G>T p.Glu1971* Nonsense 24/50 - 1
7-91691741-G-C c.5918G>C p.Arg1973Thr Missense 24/50 - 1
7-91693837-A-G c.5978-708A>G - IntronicSNV - 24/49 1
7-91694604-G-A c.6037G>A p.Glu2013Lys Missense 25/50 - 1
7-91694743-A-G c.6176A>G p.Glu2059Gly Missense 25/50 - 2
7-91695748-C-G c.6218C>G p.Ala2073Gly Missense 26/50 - 1
7-91699374-A-C c.6361A>C p.Lys2121Gln Missense 27/50 - 1
7-91700267-T-C c.6556T>C p.Ser2186Pro Missense 28/50 - 2
7-91700276-G-A c.6565G>A p.Val2189Ile Missense 28/50 - 1
7-91700879-A-G c.6612+556A>G - IntronicSNV - 28/49 3
7-91707197-C-T c.6945+8C>T - IntronicSNV - 30/49 3
7-91708219-T-C c.6946-174T>C - IntronicSNV - 30/49 1
7-91708718-A-G c.7271A>G p.Asn2424Ser Missense 31/50 - 1
7-91708728-A-C c.7281A>C p.Thr2427Thr Synonymous 31/50 - 1
7-91708728-A-G c.7281A>G p.Thr2427Thr Synonymous 31/50 - 1
7-91708728-A-T c.7281A>T p.Thr2427Thr Synonymous 31/50 - 1
7-91708885-C-T c.7438C>T p.Gln2480* Nonsense 31/50 - 1
7-91708894-T-A c.7447T>A p.Phe2483Ile Missense 31/50 - 1
7-91708898-A-G c.7451A>G p.Lys2484Arg Missense 31/50 - 2
7-91708901-C-A c.7454C>A p.Ser2485Tyr Missense 31/50 - 1
7-91709065-A-G c.7618A>G p.Ile2540Val Missense 31/50 - 1
7-91709085-A-G c.7638A>G p.Ile2546Met Missense 31/50 - 12
7-91709266-A-G c.7819A>G p.Arg2607Gly Missense 31/50 - 1
7-91709333-T-C c.7886T>C p.Val2629Ala Missense 31/50 - 1
7-91709402-G-T c.7955G>T p.Gly2652Val Missense 31/50 - 1
7-91709466-G-C c.8019G>C p.Lys2673Asn Missense 31/50 - 1
7-91709466-G-T c.8019G>T p.Lys2673Asn Missense 31/50 - 1
7-91711791-A-G c.8020-45A>G - IntronicSNV - 31/49 1
7-91711791-A-T c.8020-45A>T - IntronicSNV - 31/49 1
7-91711918-C-A c.8102C>A p.Thr2701Asn Missense 32/50 - 1
7-91711950-G-T c.8134G>T p.Ala2712Ser Missense 32/50 - 1
7-91712512-A-G c.8189A>G p.Gln2730Arg Missense 33/50 - 1
7-91712698-A-G c.8375A>G p.Asn2792Ser Missense 33/50 - 13
7-91712775-A-C c.8452A>C p.Thr2818Pro Missense 33/50 - 1
7-91712808-G-A c.8485G>A p.Glu2829Lys Missense 33/50 - 1
7-91712872-C-T c.8549C>T p.Thr2850Ile Missense 33/50 - 1
7-91712896-A-G c.8573A>G p.Tyr2858Cys Missense 33/50 - 1
7-91713017-A-T c.8646+48A>T - IntronicSNV - 33/49 1
7-91713047-T-C c.8646+78T>C - IntronicSNV - 33/49 1
7-91713963-A-G c.8656A>G p.Ile2886Val Missense 34/50 - 1
7-91713972-C-T c.8665C>T p.Leu2889Leu Synonymous 34/50 - 1
7-91714169-C-A c.8747C>A p.Thr2916Lys Missense 35/50 - 1
7-91714169-C-G c.8747C>G p.Thr2916Arg Missense 35/50 - 1
7-91714905-T-G c.8929T>G p.Ser2977Ala Missense 36/50 - 1
7-91714911-C-T c.8935C>T p.Pro2979Ser Missense 36/50 - 9
7-91714912-C-T c.8936C>T p.Pro2979Leu Missense 36/50 - 1
7-91715662-C-T c.9145C>T p.Leu3049Leu Synonymous 37/50 - 1
7-91715706-T-A c.9189T>A p.Cys3063* Nonsense 37/50 - 1
7-91716104-G-A c.9213+374G>A - IntronicSNV - 37/49 1
7-91718714-G-C c.9229G>C p.Ala3077Pro Missense 38/50 - 1
7-91718730-T-C c.9245T>C p.Leu3082Pro Missense 38/50 - 1
7-91719608-C-T c.9358+765C>T - IntronicSNV - 38/49 2
7-91724455-C-T c.9697C>T p.Arg3233Cys Missense 40/50 - 2
7-91726036-A-G c.9763A>G p.Arg3255Gly Missense 41/50 - 1
7-91726103-T-C c.9830T>C p.Ile3277Thr Missense 41/50 - 1
7-91726103-T-G c.9830T>G p.Ile3277Arg Missense 41/50 - 1
7-91726116-A-C c.9843A>C p.Arg3281Ser Missense 41/50 - 1
7-91726153-C-T c.9880C>T p.Arg3294* Nonsense 41/50 - 2
7-91726202-G-A c.9929G>A p.Arg3310Gln Missense 41/50 - 1
7-91726202-G-C c.9929G>C p.Arg3310Pro Missense 41/50 - 1
7-91726211-G-A c.9938G>A p.Ser3313Asn Missense 41/50 - 1
7-91726216-A-G c.9943A>G p.Thr3315Ala Missense 41/50 - 1
7-91726391-C-A c.10118C>A p.Ser3373Tyr Missense 41/50 - 3
7-91726391-C-G c.10118C>G p.Ser3373Cys Missense 41/50 - 1
7-91726522-C-T c.10249C>T p.Arg3417Cys Missense 41/50 - 1
7-91726576-C-T c.10303C>T p.Arg3435* Nonsense 41/50 - 1
7-91726604-A-G c.10331A>G p.Gln3444Arg Missense 41/50 - 2
7-91726907-C-T c.10406C>T p.Thr3469Met Missense 42/50 - 1
7-91726918-A-AA c.10417dup p.Thr3473Asnfs*3 Frameshift 42/50 - 1
7-91726927-A-C c.10426A>C p.Arg3476Arg Synonymous 42/50 - 2
7-91727061-A-C c.10560A>C p.Gln3520His Missense 42/50 - 2
7-91727061-A-G c.10560A>G p.Gln3520Gln Synonymous 42/50 - 1
7-91727061-A-T c.10560A>T p.Gln3520His Missense 42/50 - 2
7-91727092-C-G c.10591C>G p.Gln3531Glu Missense 42/50 - 3
7-91727448-G-A c.10633G>A p.Glu3545Lys Missense 43/50 - 1
7-91727479-A-T c.10664A>T p.Asp3555Val Missense 43/50 - 4
7-91727487-A-G c.10672A>G p.Ile3558Val Missense 43/50 - 1
7-91729001-C-G c.10714C>G p.Pro3572Ala Missense 44/50 - 1
7-91729035-C-T c.10748C>T p.Ser3583Leu Missense 44/50 - 1
7-91729127-A-G c.10840A>G p.Met3614Val Missense 44/50 - 2
7-91730213-T-C c.10940T>C p.Ile3647Thr Missense 45/50 - 1
7-91730363-C-T c.11090C>T p.Thr3697Ile Missense 45/50 - 1
7-91730591-A-T c.11097+221A>T - IntronicSNV - 45/49 2
7-91731945-G-A c.11135G>A p.Arg3712Gln Missense 46/50 - 5
7-91732035-G-A c.11225G>A p.Arg3742Gln Missense 46/50 - 1
7-91732039-G-A c.11229G>A p.Met3743Ile Missense 46/50 - 2
7-91732039-G-C c.11229G>C p.Met3743Ile Missense 46/50 - 1
7-91732039-G-T c.11229G>T p.Met3743Ile Missense 46/50 - 1
7-91732040-G-A c.11230G>A p.Gly3744Arg Missense 46/50 - 1
7-91732040-G-C c.11230G>C p.Gly3744Arg Missense 46/50 - 1
7-91732040-G-T c.11230G>T p.Gly3744Trp Missense 46/50 - 1
7-91732041-G-A c.11231G>A p.Gly3744Glu Missense 46/50 - 1
7-91732041-G-C c.11231G>C p.Gly3744Ala Missense 46/50 - 1
7-91732044-G-A c.11234G>A p.Gly3745Glu Missense 46/50 - 1
7-91732044-G-C c.11234G>C p.Gly3745Ala Missense 46/50 - 1
7-91732044-G-T c.11234G>T p.Gly3745Val Missense 46/50 - 1
7-91732045-G-A c.11235G>A p.Gly3745Gly Synonymous 46/50 - 1
7-91732045-G-C c.11235G>C p.Gly3745Gly Synonymous 46/50 - 1
7-91732045-G-GG c.11235dup p.Gln3746Alafs*52 Frameshift 46/50 - 1
7-91732082-C-T c.11272C>T p.Arg3758Cys Missense 46/50 - 1
7-91732083-G-A c.11273G>A p.Arg3758His Missense 46/50 - 1
7-91732110-C-T c.11300C>T p.Ser3767Leu Missense 46/50 - 11
7-91736674-T-A c.11484T>A p.His3828Gln Missense 48/50 - 1
7-91736684-C-A c.11494C>A p.Arg3832Ser Missense 48/50 - 1
7-91736684-C-G c.11494C>G p.Arg3832Gly Missense 48/50 - 1
7-91736684-C-T c.11494C>T p.Arg3832Cys Missense 48/50 - 2
7-91736714-TC-AA c.11524_11525delinsAA p.Ser3842Asn Missense 48/50 - 1
7-91736794-T-A c.11546+58T>A - IntronicSNV - 48/49 3
7-91736794-T-C c.11546+58T>C - IntronicSNV - 48/49 3
7-91736794-T-G c.11546+58T>G - IntronicSNV - 48/49 3
7-91737871-C-G c.11610C>G p.Tyr3870* Nonsense 49/50 - 1
7-91737943-G-T c.11682G>T p.Gln3894His Missense 49/50 - 1
7-91738788-C-G c.11687-648C>G - IntronicSNV - 49/49 8
7-91739445-C-T c.11696C>T p.Thr3899Ile Missense 50/50 - 1
7-91739456-G-A c.11707G>A p.Ala3903Thr Missense 50/50 - 1
7-91739463-T-C c.11714T>C p.Met3905Thr Missense 50/50 - 3