Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R68C

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.R68C
c.202C>T
Surrounding Variants
6 papers
NM_004366.6
p.R68H
c.203G>A
1 paper
NM_004366.6
p.C69F
c.206G>T
3 papers
NM_004366.6
p.R66Q
c.197G>A
1 paper
NM_004366.6
p.R66delFs
c.196delG
1 paper
NM_004366.6
p.G65R
c.193G>C
1 paper
NM_004366.6
p.G65R
c.193G>A
1 paper
NM_004366.6
p.R71L
c.212G>T
1 paper
NM_004366.6
p.R73C
c.217C>T
6 papers
NM_004366.6
p.R73H
c.218G>A
1 paper
NM_004366.6
p.L62_E63insC
c.184_188ins3
1 paper
NM_004366.6
p.E60*
c.178G>T
1 paper
NM_004366.6
p.P59delFs
c.175delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."