Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.P533S

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.P533S
c.1597C>T
Surrounding Variants
1 paper
NM_004366.6
p.V534L
c.1600G>C
2 papers
NM_004366.6
p.M535V
c.1603A>G
1 paper
NM_004366.6
p.I531V
c.1591A>G
1 paper
NM_004366.6
p.I536F
c.1606A>T
1 paper
NM_004366.6
p.A537S
c.1609G>T
1 paper
NM_004366.6
p.A537T
c.1609G>A
1 paper
NM_004366.6
p.T525I
c.1574C>T
1 paper
NM_004366.6
p.L524I
c.1570C>A
1 paper
NM_004366.6
p.N542N
c.1626C>T
1 paper
NM_004366.6
p.E523K
c.1567G>A
1 paper
NM_004366.6
p.V544L
c.1630G>C
1 paper
NM_004366.6
p.V544I
c.1630G>A
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."