AKAP6 A-kinase anchoring protein 6

Canonical transcript: NM_004274

181 unique variant annotations were identified in 189 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-32802755-T-C c.-35+4141T>C - intron_variant - 1/13 1
14-32809051-C-T c.-35+10437C>T - intron_variant - 1/13 1
14-32826525-G-A c.-35+27911G>A - intron_variant - 1/13 1
14-32834394-G-A c.-35+35780G>A - intron_variant - 1/13 1
14-32835143-T-C c.-35+36529T>C - intron_variant - 1/13 1
14-32842066-C-A c.-35+43452C>A - intron_variant - 1/13 1
14-32842066-C-T c.-35+43452C>T - intron_variant - 1/13 1
14-32844576-A-G c.-35+45962A>G - intron_variant - 1/13 1
14-32849257-T-A c.-35+50643T>A - intron_variant - 1/13 2
14-32849257-T-C c.-35+50643T>C - intron_variant - 1/13 2
14-32849257-T-G c.-35+50643T>G - intron_variant - 1/13 2
14-32851025-G-A c.-34-51641G>A - IntronicSNV - 1/13 1
14-32851545-C-T c.-34-51121C>T - IntronicSNV - 1/13 1
14-32851785-G-T c.-34-50881G>T - IntronicSNV - 1/13 1
14-32881246-T-G c.-34-21420T>G - IntronicSNV - 1/13 2
14-32897750-G-A c.-34-4916G>A - IntronicSNV - 1/13 1
14-32897944-T-C c.-34-4722T>C - IntronicSNV - 1/13 1
14-32897944-T-G c.-34-4722T>G - IntronicSNV - 1/13 1
14-32902739-CA-GG c.40_41delinsGG p.Gln14Gly Missense 2/14 - 1
14-32902767-C-A c.68C>A p.Ala23Asp Missense 2/14 - 1
14-32902773-C-T c.74C>T p.Pro25Leu Missense 2/14 - 1
14-32902937-A-T c.238A>T p.Thr80Ser Missense 2/14 - 1
14-32902994-C-T c.295C>T p.His99Tyr Missense 2/14 - 1
14-32903000-G-A c.301G>A p.Asp101Asn Missense 2/14 - 1
14-32909169-T-C c.324+6146T>C - IntronicSNV - 2/13 1
14-32919375-A-G c.324+16352A>G - IntronicSNV - 2/13 1
14-32922582-C-G c.324+19559C>G - IntronicSNV - 2/13 1
14-32922582-C-T c.324+19559C>T - IntronicSNV - 2/13 1
14-32923336-G-A c.324+20313G>A - IntronicSNV - 2/13 1
14-32924505-T-A c.324+21482T>A - IntronicSNV - 2/13 2
14-32924505-T-C c.324+21482T>C - IntronicSNV - 2/13 2
14-32926901-G-A c.324+23878G>A - IntronicSNV - 2/13 1
14-32952367-A-G c.324+49344A>G - IntronicSNV - 2/13 7
14-32962300-G-A c.325-42460G>A - IntronicSNV - 2/13 2
14-32966348-G-A c.325-38412G>A - IntronicSNV - 2/13 1
14-32966348-G-C c.325-38412G>C - IntronicSNV - 2/13 1
14-32969026-G-A c.325-35734G>A - IntronicSNV - 2/13 2
14-32980797-C-A c.325-23963C>A - IntronicSNV - 2/13 1
14-32980797-C-G c.325-23963C>G - IntronicSNV - 2/13 1
14-32981484-G-A c.325-23276G>A - IntronicSNV - 2/13 3
14-32990437-T-C c.325-14323T>C - IntronicSNV - 2/13 2
14-33004763-A-C c.328A>C p.Ile110Leu Missense 3/14 - 1
14-33004844-T-C c.409T>C p.Ser137Pro Missense 3/14 - 1
14-33006799-G-A c.576+1788G>A - IntronicSNV - 3/13 1
14-33006799-G-C c.576+1788G>C - IntronicSNV - 3/13 1
14-33011580-C-T c.577-2856C>T - IntronicSNV - 3/13 1
14-33014799-G-A c.940G>A p.Ala314Thr Missense 4/14 - 1
14-33014869-C-T c.1010C>T p.Ala337Val Missense 4/14 - 2
14-33014877-T-G c.1018T>G p.Ser340Ala Missense 4/14 - 1
14-33014979-AGA-CAT c.1120_1122delinsCAT p.Arg374His Missense 4/14 - 2
14-33015531-A-G c.1672A>G p.Asn558Asp Missense 4/14 - 2
14-33015733-A-T c.1874A>T p.Tyr625Phe Missense 4/14 - 1
14-33015774-C-A c.1915C>A p.Gln639Lys Missense 4/14 - 2
14-33015991-G-A c.2132G>A p.Ser711Asn Missense 4/14 - 1
14-33016008-C-G c.2149C>G p.Leu717Val Missense 4/14 - 2
14-33036657-G-A c.2347-9669G>A - IntronicSNV - 4/13 1
14-33037521-G-T c.2347-8805G>T - IntronicSNV - 4/13 3
14-33042208-C-T c.2347-4118C>T - IntronicSNV - 4/13 1
14-33043003-G-A c.2347-3323G>A - IntronicSNV - 4/13 2
14-33046431-GTAT-G c.2452_2454del p.Tyr818del InFrameDeletion 5/14 - 1
14-33046471-T-A c.2469+23T>A - IntronicSNV - 5/13 1
14-33046471-T-G c.2469+23T>G - IntronicSNV - 5/13 1
14-33063691-A-C c.2470-4925A>C - IntronicSNV - 5/13 1
14-33068662-T-C c.2516T>C p.Val839Ala Missense 6/14 - 4
14-33069990-AG-CT c.2722_2723inv p.Ser908Leu Missense 7/14 - 1
14-33072781-G-A c.2730+2783G>A - IntronicSNV - 7/13 1
14-33075243-A-G c.2730+5245A>G - IntronicSNV - 7/13 3
14-33083881-A-G c.2730+13883A>G - IntronicSNV - 7/13 1
14-33095049-A-G c.2730+25051A>G - IntronicSNV - 7/13 4
14-33126382-T-C c.2731-21135T>C - IntronicSNV - 7/13 1
14-33126484-T-C c.2731-21033T>C - IntronicSNV - 7/13 1
14-33133475-G-T c.2731-14042G>T - IntronicSNV - 7/13 1
14-33137220-G-C c.2731-10297G>C - IntronicSNV - 7/13 2
14-33137220-G-T c.2731-10297G>T - IntronicSNV - 7/13 2
14-33147578-A-C c.2792A>C p.Lys931Thr Missense 8/14 - 1
14-33147589-G-A c.2803G>A p.Glu935Lys Missense 8/14 - 1
14-33164433-G-A c.2880-763G>A - IntronicSNV - 8/13 1
14-33165230-T-C c.2914T>C p.Trp972Arg Missense 9/14 - 1
14-33175942-T-G c.3000+10626T>G - IntronicSNV - 9/13 2
14-33186257-C-T c.3001-15403C>T - IntronicSNV - 9/13 1
14-33187426-A-G c.3001-14234A>G - IntronicSNV - 9/13 1
14-33206142-T-A c.3372+1054T>A - IntronicSNV - 11/13 1
14-33207522-C-A c.3372+2434C>A - IntronicSNV - 11/13 3
14-33207906-A-G c.3372+2818A>G - IntronicSNV - 11/13 1
14-33221482-T-C c.3372+16394T>C - IntronicSNV - 11/13 2
14-33221668-T-C c.3372+16580T>C - IntronicSNV - 11/13 1
14-33225986-T-C c.3373-16898T>C - IntronicSNV - 11/13 1
14-33226621-C-A c.3373-16263C>A - IntronicSNV - 11/13 2
14-33226621-C-T c.3373-16263C>T - IntronicSNV - 11/13 2
14-33228298-A-G c.3373-14586A>G - IntronicSNV - 11/13 1
14-33228298-A-T c.3373-14586A>T - IntronicSNV - 11/13 1
14-33228881-C-T c.3373-14003C>T - IntronicSNV - 11/13 1
14-33229235-G-A c.3373-13649G>A - IntronicSNV - 11/13 1
14-33239516-A-G c.3373-3368A>G - IntronicSNV - 11/13 1
14-33242893-C-T c.3382C>T p.Arg1128Cys Missense 12/14 - 1
14-33242894-G-A c.3383G>A p.Arg1128His Missense 12/14 - 1
14-33242954-T-C c.3443T>C p.Leu1148Ser Missense 12/14 - 1
14-33242962-C-A c.3451C>A p.Arg1151Arg Synonymous 12/14 - 1
14-33242964-G-A c.3453G>A p.Arg1151Arg Synonymous 12/14 - 1
14-33242964-G-C c.3453G>C p.Arg1151Arg Synonymous 12/14 - 1
14-33242964-G-T c.3453G>T p.Arg1151Arg Synonymous 12/14 - 1
14-33242982-T-C c.3471T>C p.Asn1157Asn Synonymous 12/14 - 1
14-33245114-C-A c.3588+2015C>A - IntronicSNV - 12/13 2
14-33245114-C-T c.3588+2015C>T - IntronicSNV - 12/13 2
14-33246097-A-G c.3588+2998A>G - IntronicSNV - 12/13 1
14-33250081-G-A c.3588+6982G>A - IntronicSNV - 12/13 8
14-33252284-A-G c.3588+9185A>G - IntronicSNV - 12/13 1
14-33252284-A-T c.3588+9185A>T - IntronicSNV - 12/13 1
14-33263851-T-A c.3588+20752T>A - IntronicSNV - 12/13 1
14-33263851-T-C c.3588+20752T>C - IntronicSNV - 12/13 1
14-33270840-C-A c.3589-19768C>A - IntronicSNV - 12/13 1
14-33270840-C-G c.3589-19768C>G - IntronicSNV - 12/13 1
14-33273511-C-T c.3589-17097C>T - IntronicSNV - 12/13 1
14-33277871-C-A c.3589-12737C>A - IntronicSNV - 12/13 2
14-33282470-C-A c.3589-8138C>A - IntronicSNV - 12/13 8
14-33282470-C-T c.3589-8138C>T - IntronicSNV - 12/13 8
14-33290617-A-G c.3598A>G p.Asn1200Asp Missense 13/14 - 1
14-33290689-AT-GC c.3670_3671delinsGC p.Ile1224Ala Missense 13/14 - 1
14-33290710-TT-GC c.3691_3692delinsGC p.Leu1231Ala Missense 13/14 - 1
14-33290712-G-C c.3693G>C p.Leu1231Phe Missense 13/14 - 1
14-33290712-G-T c.3693G>T p.Leu1231Phe Missense 13/14 - 1
14-33291217-C-T c.4198C>T p.Pro1400Ser Missense 13/14 - 2
14-33291275-AG-A c.4256del p.Ser1419Thrfs*18 Frameshift 13/14 - 1
14-33291295-T-C c.4276T>C p.Ser1426Pro Missense 13/14 - 1
14-33291465-G-A c.4446G>A p.Met1482Ile Missense 13/14 - 2
14-33291465-G-C c.4446G>C p.Met1482Ile Missense 13/14 - 2
14-33291465-G-T c.4446G>T p.Met1482Ile Missense 13/14 - 2
14-33291494-C-T c.4475C>T p.Ala1492Val Missense 13/14 - 2
14-33291583-G-A c.4564G>A p.Val1522Ile Missense 13/14 - 1
14-33291603-T-A c.4584T>A p.Ile1528Ile Synonymous 13/14 - 1
14-33291603-T-C c.4584T>C p.Ile1528Ile Synonymous 13/14 - 1
14-33291727-TC-CT c.4708_4709delinsCT p.Ser1570Leu Missense 13/14 - 6
14-33291976-A-C c.4957A>C p.Ser1653Arg Missense 13/14 - 2
14-33291978-T-A c.4959T>A p.Ser1653Arg Missense 13/14 - 2
14-33291978-T-G c.4959T>G p.Ser1653Arg Missense 13/14 - 2
14-33292227-G-A c.5208G>A p.Met1736Ile Missense 13/14 - 1
14-33292227-G-C c.5208G>C p.Met1736Ile Missense 13/14 - 1
14-33292227-G-T c.5208G>T p.Met1736Ile Missense 13/14 - 1
14-33292355-T-A c.5336T>A p.Ile1779Asn Missense 13/14 - 1
14-33292366-G-A c.5347G>A p.Asp1783Asn Missense 13/14 - 1
14-33292454-T-G c.5435T>G p.Leu1812Trp Missense 13/14 - 1
14-33292562-T-A c.5543T>A p.Leu1848His Missense 13/14 - 1
14-33292708-G-A c.5689G>A p.Gly1897Ser Missense 13/14 - 1
14-33292743-A-C c.5724A>C p.Gly1908Gly Synonymous 13/14 - 5
14-33292914-A-C c.5895A>C p.Pro1965Pro Synonymous 13/14 - 1
14-33293122-A-G c.6103A>G p.Asn2035Asp Missense 13/14 - 5
14-33293275-T-G c.6256T>G p.Ser2086Ala Missense 13/14 - 1
14-33293291-A-T c.6272A>T p.Lys2091Met Missense 13/14 - 1
14-33293390-A-G c.6371A>G p.Glu2124Gly Missense 13/14 - 2
14-33293531-T-A c.6512T>A p.Phe2171Tyr Missense 13/14 - 2
14-33293603-C-T c.6584C>T p.Ser2195Phe Missense 13/14 - 2
14-33293693-G-A c.6674G>A p.Gly2225Glu Missense 13/14 - 1
14-33293962-AGA-CAT c.6943_6945delinsCAT p.Arg2315His Missense 13/14 - 1
14-33294781-C-T c.*42+760C>T - IntronicSNV - 13/13 3
14-33297398-C-A c.*43-1656C>A - intron_variant - 13/13 3
14-33297398-C-G c.*43-1656C>G - intron_variant - 13/13 3
14-33297555-C-T c.*43-1499C>T - intron_variant - 13/13 1
14-33298242-G-A c.*4263G>A - IntronicSNV 14/14 - 3
14-33298266-A-G c.*4287A>G - IntronicSNV 14/14 - 3
14-33298330-T-G c.*43-724T>G - intron_variant - 13/13 3
14-33298756-T-C c.*4777T>C - IntronicSNV 14/14 - 7
14-33299240-C-T c.*5261C>T - 3-UTRSNV 14/14 - 3
14-33299482-T-C c.*471T>C - 3_prime_UTR_variant 14/14 - 4
14-33299988-G-A c.*6009G>A - 3-UTRSNV 14/14 - 4
14-33302882-G-T c.*3871G>T - 3_prime_UTR_variant 14/14 - 17
14-33302960-G-A c.*3949G>A - 3_prime_UTR_variant 14/14 - 3
14-33303059-A-T c.*4048A>T - 3_prime_UTR_variant 14/14 - 3
14-33303540-C-A c.*4529C>A - 3_prime_UTR_variant 14/14 - 1
14-33303540-C-T c.*4529C>T - 3_prime_UTR_variant 14/14 - 1
14-33303589-T-G c.*4578T>G - 3_prime_UTR_variant 14/14 - 1
14-33304091-G-A c.*5080G>A - 3_prime_UTR_variant 14/14 - 3
14-33304091-G-T c.*5080G>T - 3_prime_UTR_variant 14/14 - 3
14-33304431-T-C c.*5420T>C - 3_prime_UTR_variant 14/14 - 2
14-33304534-A-G c.*5523A>G - 3_prime_UTR_variant 14/14 - 1
14-33304534-A-T c.*5523A>T - 3_prime_UTR_variant 14/14 - 1
14-33304711-G-A c.*5700G>A - 3_prime_UTR_variant 14/14 - 1
14-33305209-C-A c.*6198C>A - 3_prime_UTR_variant 14/14 - 3
14-33305209-C-G c.*6198C>G - 3_prime_UTR_variant 14/14 - 3
14-33305209-C-T c.*6198C>T - 3_prime_UTR_variant 14/14 - 3
14-33305343-G-C c.*6332G>C - 3_prime_UTR_variant 14/14 - 4
14-33305499-T-G c.*6488T>G - 3_prime_UTR_variant 14/14 - 3