Varaico: Literature-Extracted Genetic Variants

Gene:CACNG4
Variant:p.M24T

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
1 paper
NM_014405.4
p.M24T
c.71T>C
Surrounding Variants
1 paper
NM_014405.4
p.D31V
c.92A>T
1 paper
NM_014405.4
p.L34R
c.101T>G
1 paper
NM_014405.4
p.A38G
c.113C>G
1 paper
NM_014405.4
p.M10insFs
c.28_29ins10
1 paper
NM_014405.4
p.C41S
c.122G>C
1 paper
NM_014405.4
p.D5N
c.13G>A
1 paper
NM_014405.4
p.R3Q
c.8G>A
1 paper
NM_014405.4
p.N45K
c.135C>A
1 paper
NM_014405.4
p.N45K
c.135C>G
1 paper
NM_014405.4
p.M48R
c.143T>G
1 paper
NM_014405.4
p.R58L
c.173G>T
1 paper
NM_014405.4
p.H63D
c.187C>G
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