Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.E26V

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.E26V
c.77A>T
Surrounding Variants
1 paper
NM_001829.4
p.A22A
c.66A>T
1 paper
NM_001829.4
p.N14delFs
c.40delA
1 paper
NM_001829.4
p.G10S
c.28G>A
1 paper
NM_001829.4
p.D43G
c.128A>G
3 papers
NM_001829.4
p.S3S
c.9T>A
1 paper
NM_001829.4
p.M1L
c.1A>C
1 paper
NM_001829.4
p.M1L
c.1A>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."