Varaico: Literature-Extracted Genetic Variants

Gene:CACNG1
Variant:p.H31L

CACNG1

33 papers

RefSeq Summary

Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particu...

Pfam Domains

Claudin_2aa 17–201UCSCPMP-22/EMP/MP20/Claudin tight junction

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 1

HGNC Previous Symbol

CACNLG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000727.4
p.H31L
c.92A>T
Surrounding Variants
1 paper
NM_000727.4
p.G52S
c.154G>A
1 paper
NM_000727.4
p.W54*
c.161G>A
1 paper
NM_000727.4
p.W54*
c.162G>A
1 paper
NM_000727.4
p.S2F
c.5C>T
1 paper
NM_000727.4
p.M63I
c.189G>A
1 paper
NM_000727.4
p.M63I
c.189G>C
1 paper
NM_000727.4
p.M63I
c.189G>T
1 paper
NM_000727.4
p.P71T
c.211C>A
1 paper
NM_000727.4
p.G76W
c.226G>T
1 paper
NM_000727.4
p.E77K
c.229G>A
1 paper
NM_000727.4
p.E77Splc
c.229+5C>A
1 paper
NM_000727.4
p.K78*
c.232A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."