Varaico: Literature-Extracted Genetic Variants

Gene:CACNG3
Variant:p.V315I

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.V315I
c.943G>A
Surrounding Variants
1 paper
NM_006539.4
p.P314P
c.942C>T
1 paper
NM_006539.4
p.P314S
c.940C>T
1 paper
NM_006539.4
p.T313M
c.938C>T
1 paper
NM_006539.4
p.R311H
c.932G>A
2 papers
NM_006539.4
p.R311P
c.932G>C
1 paper
NM_006539.4
p.A287T
c.859G>A
1 paper
NM_006539.4
p.D283D
c.849C>T
1 paper
NM_006539.4
p.T275I
c.824C>T
2 papers
NM_006539.4
p.P271T
c.811C>A
2 papers
NM_006539.4
p.S263L
c.788C>T
1 paper
NM_006539.4
p.G253A
c.758G>C
1 paper
NM_006539.4
p.R232Q
c.695G>A
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