Varaico: Literature-Extracted Genetic Variants

Gene:CACNG8

CACNG8

50 papers

RefSeq 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 fun...

Pfam Domains

PMP22_Claudinaa 17–223UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 8

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_031895.6
p.V100I
c.298G>A
2 papers
NM_031895.6
p.V146G
c.437T>G
2 papers
NM_031895.6
p.G331_A332del1
c.992_994delGCG
2 papers
NM_031895.6
p.A340_G342del3
c.1018_1025del9
2 papers
NM_031895.6
p.P390_P391del0
c.1168_1173del6
1 paper
NM_031895.6
p.E9K
c.25G>A
1 paper
NM_031895.6
p.S40N
c.119G>A
1 paper
NM_031895.6
p.D42Y
c.124G>T
1 paper
NM_031895.6
p.R48S
c.142C>A
1 paper
NM_031895.6
p.G60S
c.178G>A
1 paper
NM_031895.6
p.G61G
c.183C>T
1 paper
NM_031895.6
p.G70D
c.209G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."