Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R172G

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
4 papers
NM_004366.6
p.R172G
c.514C>G
Surrounding Variants
20 papers
NM_004366.6
p.R172Q
c.515G>A
1 paper
NM_004366.6
p.G173E
c.518G>A
2 papers
NM_004366.6
p.I170T
c.509T>C
1 paper
NM_004366.6
p.I170V
c.508A>G
1 paper
NM_004366.6
p.V174G
c.521T>G
1 paper
NM_004366.6
p.T169N
c.506C>A
1 paper
NM_004366.6
p.T169S
c.505A>T
3 papers
NM_004366.6
p.E166D
c.498G>T
3 papers
NM_004366.6
p.E166D
c.498G>C
1 paper
NM_004366.6
p.E166A
c.497A>C
1 paper
NM_004366.6
p.E178K
c.532G>A
1 paper
NM_004366.6
p.P165L
c.494C>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."