Varaico: Literature-Extracted Genetic Variants

Gene:CACNG3
Variant:p.E70Q

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
1 paper
NM_006539.4
p.E70Q
c.208G>C
Surrounding Variants
1 paper
NM_006539.4
p.N48K
c.144T>A
1 paper
NM_006539.4
p.N48K
c.144T>G
1 paper
NM_006539.4
p.T42N
c.125C>A
1 paper
NM_006539.4
p.D31V
c.92A>T
1 paper
NM_006539.4
p.T30M
c.89C>T
1 paper
NM_006539.4
p.R6K
c.17G>A
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