Varaico: Literature-Extracted Genetic Variants

Gene:CACNG4
Variant:p.P260S

CACNG4

34 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 6–202UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 4

HGNC Alias Symbols

MGC11138; MGC24983

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014405.4
p.P260S
c.778C>T
Surrounding Variants
1 paper
NM_014405.4
p.R248M
c.743G>T
1 paper
NM_014405.4
p.R240Q
c.719G>A
1 paper
NM_014405.4
p.S280F
c.839C>T
3 papers
NM_014405.4
p.R239W
c.715C>T
1 paper
NM_014405.4
p.S227P
c.679T>C
1 paper
NM_014405.4
p.H304Y
c.910C>T
1 paper
NM_014405.4
p.E212D
c.636G>C
1 paper
NM_014405.4
p.E212D
c.636G>T
1 paper
NM_014405.4
p.Q309L
c.926A>T
1 paper
NM_014405.4
p.Y181Y
c.543C>T
1 paper
NM_014405.4
p.I156L
c.466A>C
1 paper
NM_014405.4
p.R133L
c.398G>T
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