AKAP4 A-kinase anchoring protein 4

Canonical transcript: NM_003886

21 unique variant annotations were identified in 17 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
X-49955729-C-T c.2439G>A p.Glu813Glu Synonymous 6/6 - 1
X-49957216-G-A c.2148C>T p.Asn716Asn Synonymous 5/6 - 1
X-49957334-CA-AC c.2029_2030delinsGT p.Cys677Val Missense 5/6 - 1
X-49957346-G-A c.2018C>T p.Ala673Val Missense 5/6 - 1
X-49957346-G-C c.2018C>G p.Ala673Gly Missense 5/6 - 1
X-49957667-CA-AC c.1696_1697delinsGT p.Cys566Val Missense 5/6 - 1
X-49957768-C-T c.1596G>A p.Lys532Lys Synonymous 5/6 - 1
X-49958128-G-C c.1236C>G p.Phe412Leu Missense 5/6 - 1
X-49958128-G-T c.1236C>A p.Phe412Leu Missense 5/6 - 1
X-49958130-A-G c.1234T>C p.Phe412Leu Missense 5/6 - 1
X-49958384-T-G c.980A>C p.Asp327Ala Missense 5/6 - 1
X-49958477-CC-AA c.886_887delinsTT p.Gly296Phe Missense 5/6 - 1
X-49958477-C-T c.887G>A p.Gly296Asp Missense 5/6 - 2
X-49958571-T-C c.793A>G p.Thr265Ala Missense 5/6 - 1
X-49958910-A-T c.454T>A p.Ser152Thr Missense 5/6 - 1
X-49958994-C-T c.370G>A p.Gly124Ser Missense 5/6 - 1
X-49963344-G-C c.87C>G p.Tyr29* Nonsense 2/6 - 1
X-49963344-G-T c.87C>A p.Tyr29* Nonsense 2/6 - 1
X-49963398-AGA-GAG c.31_33delinsCTC p.Ser11Leu Missense 2/6 - 1
X-49963399-G-C c.32C>G p.Ser11Cys Missense 2/6 - 1
X-49963400-A-C c.31T>G p.Ser11Ala Missense 2/6 - 2