Varaico: Literature-Extracted Genetic Variants

Gene:CACNG8
Variant:p.V146G

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.V146G
c.437T>G
Surrounding Variants
1 paper
NM_031895.6
p.I137M
c.411C>G
1 paper
NM_031895.6
p.F131_P132del1
c.393_395delCCC
1 paper
NM_031895.6
p.F166L
c.496T>C
1 paper
NM_031895.6
p.F166L
c.498C>A
1 paper
NM_031895.6
p.F166L
c.498C>G
1 paper
NM_031895.6
p.R123Splc
c.368-3C>T
1 paper
NM_031895.6
p.R123*
c.367C>T
1 paper
NM_031895.6
p.D114N
c.340G>A
1 paper
NM_031895.6
p.D114del1
c.340_342delGAC
1 paper
NM_031895.6
p.E109D
c.327G>C
1 paper
NM_031895.6
p.E109del1
c.325_327delGAG
1 paper
NM_031895.6
p.V102E
c.305T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."