Varaico: Literature-Extracted Genetic Variants

Gene:CACNG3
Variant:p.G165W

CACNG3

53 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 6–196UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 3

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006539.4
p.G165W
c.493G>T
Surrounding Variants
1 paper
NM_006539.4
p.G165R
c.493G>A
1 paper
NM_006539.4
p.S172delFs
c.514delA
1 paper
NM_006539.4
p.S172fs
c.514_515fs
1 paper
NM_006539.4
p.S172fs
c.514_515fs
1 paper
NM_006539.4
p.W177L
c.530G>T
1 paper
NM_006539.4
p.G182R
c.544G>A
1 paper
NM_006539.4
p.G182R
c.544G>C
1 paper
NM_006539.4
p.G193E
c.578G>A
1 paper
NM_006539.4
p.Q205*
c.613C>T
2 papers
NM_006539.4
p.R208Q
c.623G>A
1 paper
NM_006539.4
p.S213L
c.638C>T
2 papers
NM_006539.4
p.R230*
c.688C>T
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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."