rs778044197

This variant is located in the CACNG8 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CACNG8

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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