CACNG8

calcium voltage-gated channel auxiliary subunit gamma 8

Summary

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]

Known Variants30 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251464460019:54,466,449G/Auncertain significance
rs87892719219:54,466,560C/Guncertain significance
rs77556104719:54,466,613G/Cuncertain significance
rs1042033119:54,469,068G/Aintron variant
rs1108430719:54,481,150T/Cregulatory region variant
rs147484606119:54,483,124T/Cuncertain significance
rs120182011519:54,483,189G/Cuncertain significance
rs77105259919:54,483,201C/Tuncertain significance
rs52804246019:54,483,334G/A
rs14246324119:54,485,382G/Auncertain significance
rs75147566419:54,485,384G/Auncertain significance
rs57444459919:54,485,406A/Guncertain significance
rs76374378919:54,485,531T/Guncertain significance
rs251465895719:54,485,568G/Auncertain significance
rs251465898519:54,485,580G/Cuncertain significance
rs136005063319:54,485,766C/Tuncertain significance
rs130659828119:54,485,850G/Auncertain significance
rs139991370419:54,485,859G/Auncertain significance
rs130530282519:54,485,925C/Tuncertain significance
rs214594291619:54,485,963G/Auncertain significance
rs148988852419:54,485,969G/Auncertain significance
rs117533746919:54,485,981G/Auncertain significance
rs91126825519:54,485,985C/Auncertain significance
rs147271299419:54,485,990G/Auncertain significance
rs206938078819:54,485,999G/Auncertain significance
rs132433793019:54,486,009C/Tuncertain significance
rs251466040319:54,486,038A/Cuncertain significance
rs77804419719:54,486,045C/Tuncertain significance
rs90245793119:54,486,052G/Cuncertain significance
rs251466051419:54,486,089A/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.