Varaico: Literature-Extracted Genetic Variants

Gene:CACNG8
Variant:p.P390_P391del0

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
Selected Variant
2 papers
NM_031895.6
p.P390_P391del0
c.1168_1173del6
Surrounding Variants
1 paper
NM_031895.6
p.P393_P395del0
c.1177_1185del9
1 paper
NM_031895.6
p.G404W
c.1210G>T
1 paper
NM_031895.6
p.G404V
c.1211G>T
1 paper
NM_031895.6
p.P373H
c.1118C>A
1 paper
NM_031895.6
p.G361V
c.1082G>T
2 papers
NM_031895.6
p.A340_G342del3
c.1018_1025del9
1 paper
NM_031895.6
p.G327C
c.979G>T
2 papers
NM_031895.6
p.G331_A332del1
c.992_994delGCG
1 paper
NM_031895.6
p.A325_G327del0
c.975_980del6
1 paper
NM_031895.6
p.A325_G327del3
c.973_980del9
1 paper
NM_031895.6
p.K315T
c.944A>C
1 paper
NM_031895.6
p.R311H
c.932G>A
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