Varaico: Literature-Extracted Genetic Variants

Gene:CACNG2
Variant:p.Y288N

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.Y288N
c.862T>A
Surrounding Variants
1 paper
NM_006078.5
p.S274N
c.821G>A
1 paper
NM_006078.5
p.E267E
c.801G>A
1 paper
NM_006078.5
p.T266M
c.797C>T
1 paper
NM_006078.5
p.S310Y
c.929C>A
1 paper
NM_006078.5
p.P264L
c.791C>T
2 papers
NM_006078.5
p.T321A
c.961A>G
1 paper
NM_006078.5
p.P322A
c.964C>G
1 paper
NM_006078.5
p.R242P
c.725G>C
1 paper
NM_006078.5
p.I226T
c.677T>C
1 paper
NM_006078.5
p.Q219Q
c.657G>A
1 paper
NM_006078.5
p.T215A
c.643A>G
1 paper
NM_006078.5
p.A210V
c.629C>T
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