AKAP8 A-kinase anchoring protein 8

Canonical transcript: NM_005858

44 unique variant annotations were identified in 14 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-15465763-GT-GG c.2041delinsC p.Thr681Pro Missense 14/14 - 1
19-15465877-CT-CA c.1927delinsT p.Arg643* Missense 14/14 - 1
19-15465976-G-A c.1829C>T p.Thr610Met Missense 14/14 - 1
19-15466028-C-G c.1777G>C p.Gly593Arg Missense 14/14 - 1
19-15466028-C-T c.1777G>A p.Gly593Arg Missense 14/14 - 1
19-15466060-AT-CC c.1744_1745delinsGG p.Ile582Gly Missense 14/14 - 2
19-15466063-A-G c.1742T>C p.Val581Ala Missense 14/14 - 1
19-15466139-C-T c.1666G>A p.Glu556Lys Missense 14/14 - 1
19-15469785-T-A c.1616A>T p.Tyr539Phe Missense 13/14 - 1
19-15471673-T-C c.1513A>G p.Asn505Asp Missense 12/14 - 1
19-15471744-C-G c.1442G>C p.Cys481Ser Missense 12/14 - 1
19-15471745-A-T c.1441T>A p.Cys481Ser Missense 12/14 - 1
19-15472591-G-T c.1345C>A p.Gln449Lys Missense 11/14 - 1
19-15472629-T-A c.1307A>T p.Tyr436Phe Missense 11/14 - 1
19-15472944-C-G c.1279G>C p.Asp427His Missense 10/14 - 1
19-15472944-C-T c.1279G>A p.Asp427Asn Missense 10/14 - 1
19-15473048-C-G c.1175G>C p.Cys392Ser Missense 10/14 - 1
19-15473049-A-T c.1174T>A p.Cys392Ser Missense 10/14 - 1
19-15482761-A-G c.1038+2T>C - IntronicSNV - 7/13 1
19-15483088-T-A c.932A>T p.Tyr311Phe Missense 6/14 - 1
19-15483105-CCG-AGC c.913_915delinsGCT p.Arg305Ala Missense 6/14 - 2
19-15483108-T-A c.912A>T p.Lys304Asn Missense 6/14 - 1
19-15483108-T-G c.912A>C p.Lys304Asn Missense 6/14 - 1
19-15483108-TT-GC c.911_912delinsGC p.Lys304Ser Missense 6/14 - 1
19-15483137-G-A c.883C>T p.Arg295Cys Missense 6/14 - 1
19-15483137-G-C c.883C>G p.Arg295Gly Missense 6/14 - 1
19-15483150-C-A c.870G>T p.Arg290Ser Missense 6/14 - 2
19-15483150-C-G c.870G>C p.Arg290Ser Missense 6/14 - 2
19-15483851-C-A c.672G>T p.Trp224Cys Missense 5/14 - 1
19-15483851-C-G c.672G>C p.Trp224Cys Missense 5/14 - 1
19-15483942-C-T c.581G>A p.Arg194His Missense 5/14 - 1
19-15483999-T-G c.524A>C p.Asp175Ala Missense 5/14 - 1
19-15484014-T-A c.509A>T p.Tyr170Phe Missense 5/14 - 1
19-15484018-G-A c.505C>T p.Gln169* Nonsense 5/14 - 1
19-15484062-T-A c.461A>T p.Tyr154Phe Missense 5/14 - 1
19-15484068-T-A c.455A>T p.Tyr152Phe Missense 5/14 - 1
19-15484074-T-A c.449A>T p.Tyr150Phe Missense 5/14 - 1
19-15484086-T-A c.437A>T p.Tyr146Phe Missense 5/14 - 1
19-15484087-A-C c.436T>G p.Tyr146Asp Missense 5/14 - 1
19-15484729-T-A c.239A>T p.Tyr80Phe Missense 4/14 - 1
19-15484809-G-A c.159C>T p.Tyr53Tyr Synonymous 4/14 - 1
19-15484810-T-A c.158A>T p.Tyr53Phe Missense 4/14 - 1
19-15484816-T-A c.152A>T p.Tyr51Phe Missense 4/14 - 1
19-15487793-T-G c.52A>C p.Thr18Pro Missense 2/14 - 1