Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R42C

CLCN2

332 papers

RefSeq Summary

This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of cert...

Pfam Domains

Voltage_CLCaa 142–546UCSCVoltage gated chloride channel

Gene Aliases

HGNC Name

chloride voltage-gated channel 2

HGNC Alias Symbols

CLC2; EJM6; ClC-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004366.6
p.R42C
c.124C>T
Surrounding Variants
1 paper
NM_004366.6
p.R42G
c.124C>G
2 papers
NM_004366.6
p.R42L
c.125G>T
1 paper
NM_004366.6
p.R42P
c.125G>C
1 paper
NM_004366.6
p.R42H
c.125G>A
1 paper
NM_004366.6
p.R40Q
c.119G>A
2 papers
NM_004366.6
p.G44R
c.130G>C
2 papers
NM_004366.6
p.G44R
c.130G>A
2 papers
NM_004366.6
p.R40W
c.118C>T
1 paper
NM_004366.6
p.G45G
c.135G>A
1 paper
NM_004366.6
p.A38V
c.113C>T
1 paper
NM_004366.6
p.D29_K35del7
c.85_104del21
1 paper
NM_004366.6
p.E47V
c.140A>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."