GKAP1

G kinase anchoring protein 1

Summary

This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Known Variants24 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1456310539:86,356,874T/Cuncertain significance
rs7757060029:86,357,450T/Guncertain significance
rs25377095549:86,363,271A/Guncertain significance
rs78551779:86,381,582A/T
rs1488405129:86,383,737T/Cuncertain significance
rs1379961369:86,383,743T/Auncertain significance
rs7686692819:86,383,770T/Auncertain significance
rs11745173879:86,383,810G/Auncertain significance
rs25377473709:86,383,821A/Tuncertain significance
rs19437101739:86,383,840T/Guncertain significance
rs7618822639:86,395,308T/Cuncertain significance
rs11820679189:86,395,312A/Cuncertain significance
rs7640479189:86,399,638T/Cuncertain significance
rs7795738749:86,399,673T/Auncertain significance
rs48772659:86,411,360C/G
rs1506021769:86,414,152T/Cuncertain significance
rs7812245719:86,414,171G/Cuncertain significance
rs7458675909:86,414,186C/Tuncertain significance
rs65597449:86,418,422G/Aintron variant
rs13815553439:86,421,281G/Auncertain significance
rs14173336079:86,421,282T/Cuncertain significance
rs7798095409:86,421,285T/Auncertain significance
rs1473253679:86,421,408C/Guncertain significance
rs2952689:86,429,305T/Cintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.