Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.L337L

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
1 paper
NM_001829.4
p.L337L
c.1011G>A
Surrounding Variants
1 paper
NM_001829.4
p.E339Q
c.1015G>C
3 papers
NM_001829.4
p.E339A
c.1016A>C
1 paper
NM_001829.4
p.G327D
c.980G>A
1 paper
NM_001829.4
p.G327A
c.980G>C
2 papers
NM_001829.4
p.G327S
c.979G>A
1 paper
NM_001829.4
p.V324A
c.971T>C
1 paper
NM_001829.4
p.A319V
c.956C>T
1 paper
NM_001829.4
p.A319S
c.955G>T
1 paper
NM_001243374.2
p.Y315_Y316delFs
c.943_946del4
1 paper
NM_001829.4
p.G370V
c.1109G>T
1 paper
NM_001829.4
p.R373H
c.1118G>A
2 papers
NM_001829.4
p.L376P
c.1127T>C
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