Varaico: Literature-Extracted Genetic Variants

Gene:CACNG2
Variant:p.D31V

CACNG2

66 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. The AMPA subtype of ionotr...

Pfam Domains

PMP22_Claudinaa 6–197UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 2

HGNC Alias Symbols

stargazin; MGC138502; MGC138504

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006078.5
p.D31V
c.92A>T
Surrounding Variants
1 paper
NM_006078.5
p.V39V
c.117T>C
1 paper
NM_006078.5
p.T14T
c.42C>G
1 paper
NM_006078.5
p.N48K
c.144T>G
1 paper
NM_006078.5
p.N48K
c.144T>A
1 paper
NM_006078.5
p.K53N
c.159G>T
1 paper
NM_006078.5
p.K53N
c.159G>C
1 paper
NM_006078.5
p.M1_R6del0
c.1_18del18
1 paper
NM_006078.5
p.E70K
c.208G>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."