Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3

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
1–12 of 119 variants
5 papers
NM_001829.4
p.I607T
c.1820T>C
4 papers
NM_001829.4
p.T570I
c.1709C>T
3 papers
NM_001829.4
p.S3S
c.9T>A
3 papers
NM_001829.4
p.E339A
c.1016A>C
2 papers
NM_001829.4
p.Y85C
c.254A>G
2 papers
NM_001829.4
p.K112fs
c.334_335fs
2 papers
NM_001829.4
p.E282A
c.845A>C
2 papers
NM_001829.4
p.G327S
c.979G>A
2 papers
NM_001829.4
p.L376P
c.1127T>C
2 papers
NM_001829.4
p.R417Q
c.1250G>A
2 papers
NM_001829.4
p.S453R
c.1357A>C
2 papers
NM_001829.4
p.S453R
c.1359T>A
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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."