Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.Y26N

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
18 papers
NM_004366.6
p.Y26N
c.76T>A
Surrounding Variants
1 paper
NM_004366.6
p.Y26F
c.77A>T
1 paper
NM_004366.6
p.R25Q
c.74G>A
1 paper
NM_004366.6
p.R25W
c.73C>T
1 paper
NM_004366.6
p.G24G
c.72C>T
31 papers
NM_004366.6
p.G24D
c.71G>A
1 paper
NM_004366.6
p.M22fs
c.64_65fs
19 papers
NM_004366.6
p.M22K
c.65T>A
1 paper
NM_004366.6
p.M22fs
c.64_65fs
1 paper
NM_004366.6
p.G31R
c.91G>C
2 papers
NM_004366.6
p.G31R
c.91G>A
2 papers
NM_004366.6
p.F33L
c.97T>C
1 paper
NM_004366.6
p.F33L
c.99T>G
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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."