Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.E282A

CLCN3

99 papers

RefSeq Summary

This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a...

Pfam Domains

Voltage_CLCaa 221–622UCSCVoltage gated chloride channel
CBSaa 751–806UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 3

HGNC Alias Symbols

CLC3; ClC-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001829.4
p.E282A
c.845A>C
Surrounding Variants
1 paper
NM_001829.4
p.E282K
c.844G>A
1 paper
NM_001829.4
p.G280E
c.839G>A
1 paper
NM_001829.4
p.W260*
c.780G>A
1 paper
NM_001829.4
p.W260*
c.779G>A
1 paper
NM_001829.4
p.L257M
c.769T>A
1 paper
NM_001829.4
p.R311delFs
c.931delA
1 paper
NM_001829.4
p.K309fs
c.925_926fs
1 paper
NM_001243374.2
p.R227I
c.680G>T
1 paper
NM_001829.4
p.E312Q
c.934G>C
1 paper
NM_001829.4
p.E312A
c.935A>C
1 paper
NM_001829.4
p.I252T
c.755T>C
1 paper
NM_001243374.2
p.P207R
c.620C>G
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