AKAP10

A-kinase anchoring protein 10

Summary

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs105752394817:19,812,505T/Cuncertain significance
rs75461470117:19,812,514G/Tuncertain significance
rs254420140417:19,812,531T/Cuncertain significance
rs20346217:19,812,541T/Cmissense variantuncertain significance
rs20345617:19,820,224C/Tintron variant
rs20345217:19,822,480G/Aintron variant
rs20348217:19,827,210G/Aintron variant
rs78161537617:19,827,779T/Cuncertain significance
rs14208487317:19,827,781G/Auncertain significance
rs6174986517:19,835,112C/Tbenign
rs77651847017:19,835,129A/Cuncertain significance
rs14662296817:19,835,150G/Auncertain significance
rs37524072117:19,835,153A/Tuncertain significance
rs1187036017:19,835,191G/Abenign
rs76705451317:19,839,594G/Tuncertain significance
rs37524040117:19,839,624C/Tuncertain significance
rs14560062217:19,839,747T/Clikely benign
rs77050419217:19,843,121C/Guncertain significance
rs36881519717:19,843,122C/Auncertain significance
rs207233617:19,843,127T/Clikely benign
rs14366823517:19,844,278C/Guncertain significance
rs75194575817:19,845,179C/Tuncertain significance
rs75781458917:19,845,180G/Alikely benign
rs125826528817:19,845,223G/Cuncertain significance
rs163852517:19,848,594G/Cregulatory region variant
rs92499012517:19,850,806T/Auncertain significance
rs77077323817:19,850,818C/Tuncertain significance
rs17592117:19,854,918C/A
rs18576517:19,854,939A/G
rs20347017:19,858,626C/Tintron variant
rs98523610417:19,861,354T/Cuncertain significance
rs117129030217:19,861,383G/Auncertain significance
rs76875576217:19,861,401G/Auncertain significance
rs76111771317:19,861,426C/Tuncertain significance
rs76691782217:19,861,442T/Guncertain significance
rs210897817:19,861,458C/Tbenign
rs14448211017:19,861,513T/Guncertain significance
rs119477581617:19,861,536A/Guncertain significance
rs14664788817:19,861,586T/Clikely benign
rs14018008917:19,861,644G/Auncertain significance
rs76148281917:19,861,699T/Cuncertain significance
rs14382842917:19,861,704G/Auncertain significance
rs36828365417:19,866,204T/Cuncertain significance
rs78078734317:19,866,255T/Cuncertain significance
rs76280296917:19,866,267T/Cuncertain significance
rs119363980917:19,866,291C/Guncertain significance
rs37019848317:19,871,750G/Auncertain significance
rs204358963717:19,880,946C/Auncertain significance
rs54291161817:19,880,980C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.