Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.W570*

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
16 papers
NM_004366.6
p.W570*
c.1710G>A
Surrounding Variants
17 papers
NM_004366.6
p.W570*
c.1709G>A
2 papers
NM_004366.6
p.G569S
c.1705G>A
2 papers
NM_004366.6
p.P566S
c.1696C>T
1 paper
NM_004366.6
p.K560M
c.1679A>T
1 paper
NM_004366.6
p.R558Q
c.1673G>A
2 papers
NM_004366.6
p.R558*
c.1672C>T
2 papers
NM_004366.6
p.I556N
c.1667T>A
1 paper
NM_004366.6
p.L552L
c.1656C>G
1 paper
NM_004366.6
p.L552L
c.1656C>A
1 paper
NM_004366.6
p.Q546K
c.1636C>A
1 paper
NM_004366.6
p.A545T
c.1633G>A
1 paper
NM_004366.6
p.V544L
c.1630G>C
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."