Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.P52P

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.P52P
c.156C>A
Surrounding Variants
1 paper
NM_004366.6
p.S54delFs
c.162delG
1 paper
NM_004366.6
p.K50I
c.149A>T
1 paper
NM_004366.6
p.W49fs
c.145_146fs
1 paper
NM_004366.6
p.W49delFs
c.145delA
6 papers
NM_004366.6
p.P48R
c.143C>G
1 paper
NM_004366.6
p.E47D
c.141A>T
1 paper
NM_004366.6
p.E47D
c.141A>C
1 paper
NM_004366.6
p.E47V
c.140A>T
1 paper
NM_004366.6
p.G51_A57del7
c.151_170del21
1 paper
NM_004366.6
p.G45G
c.135G>A
1 paper
NM_004366.6
p.P59delFs
c.175delG
1 paper
NM_004366.6
p.E60*
c.178G>T
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."