Varaico: Literature-Extracted Genetic Variants

Gene:CACNG8
Variant:p.K244R

CACNG8

50 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 17–223UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 8

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031895.6
p.K244R
c.731A>G
Surrounding Variants
1 paper
NM_031895.6
p.D241_A245del0
c.723_734del12
1 paper
NM_031895.6
p.S252G
c.754A>G
1 paper
NM_031895.6
p.L222L
c.666G>A
1 paper
NM_031895.6
p.E217*
c.649G>T
1 paper
NM_031895.6
p.G210A
c.629G>C
1 paper
NM_031895.6
p.G209A
c.626G>C
1 paper
NM_031895.6
p.P283A
c.847C>G
1 paper
NM_031895.6
p.G292G
c.876C>T
1 paper
NM_031895.6
p.E194Q
c.580G>C
1 paper
NM_031895.6
p.D193N
c.577G>A
1 paper
NM_031895.6
p.R311H
c.932G>A
1 paper
NM_031895.6
p.K315T
c.944A>C
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