AKAP10 A-kinase anchoring protein 10

Canonical transcript: NM_007202

31 unique variant annotations were identified in 54 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
17-19809078-C-T c.*462G>A - 3-UTRSNV 15/15 - 1
17-19809749-C-T c.1984-204G>A - IntronicSNV - 14/14 1
17-19809953-C-A c.1984-408G>T - IntronicSNV - 14/14 2
17-19809953-C-G c.1984-408G>C - IntronicSNV - 14/14 2
17-19809953-C-T c.1984-408G>A - IntronicSNV - 14/14 2
17-19810720-T-G c.1984-1175A>C - IntronicSNV - 14/14 1
17-19812541-T-C c.1936A>G p.Ile646Val Missense 14/15 - 26
17-19818338-C-A c.1834+5011G>T - IntronicSNV - 12/14 2
17-19818338-C-T c.1834+5011G>A - IntronicSNV - 12/14 2
17-19818601-A-G c.1834+4748T>C - IntronicSNV - 12/14 1
17-19824621-C-T c.1752-1190G>A - IntronicSNV - 11/14 1
17-19828728-C-T c.1642-898G>A - IntronicSNV - 10/14 1
17-19835117-C-T c.1641+1G>A - IntronicSNV - 10/14 1
17-19835191-G-A c.1568C>T p.Ser523Leu Missense 10/15 - 1
17-19835191-G-C c.1568C>G p.Ser523Trp Missense 10/15 - 1
17-19839697-C-T c.1369G>A p.Val457Ile Missense 9/15 - 1
17-19843056-G-A c.1292C>T p.Ala431Val Missense 8/15 - 1
17-19843122-C-A c.1226G>T p.Trp409Leu Missense 8/15 - 1
17-19848594-G-C c.976+2126C>G - IntronicSNV - 5/14 1
17-19850810-G-A c.886C>T p.Gln296* Nonsense 5/15 - 1
17-19861371-CT-CC c.832delinsG p.Ser278Gly Missense 4/15 - 1
17-19861458-C-G c.746G>C p.Arg249Pro Missense 4/15 - 10
17-19861458-C-T c.746G>A p.Arg249His Missense 4/15 - 11
17-19861659-A-G c.545T>C p.Leu182Pro Missense 4/15 - 1
17-19861755-T-G c.449A>C p.His150Pro Missense 4/15 - 1
17-19861776-A-G c.428T>C p.Met143Thr Missense 4/15 - 1
17-19866257-G-A c.215C>T p.Ala72Val Missense 3/15 - 1
17-19869544-C-T c.136+2183G>A - IntronicSNV - 2/14 1
17-19871922-T-C c.89-148A>G - IntronicSNV - 1/14 1
17-19871922-T-G c.89-148A>C - IntronicSNV - 1/14 1
17-19880910-CG-TA c.82_83delinsTA p.Arg28* Nonsense 1/15 - 1