Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R629C

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
2 papers
NM_004366.6
p.R629C
c.1885C>T
Surrounding Variants
1 paper
NM_004366.6
p.L635S
c.1904T>C
1 paper
NM_004366.6
p.L636S
c.1907T>C
1 paper
NM_004366.6
p.G637R
c.1909G>C
1 paper
NM_004366.6
p.S620C
c.1859C>G
1 paper
NM_004366.6
p.S620A
c.1858T>G
1 paper
NM_004366.6
p.A638V
c.1913C>T
1 paper
NM_004366.6
p.E619A
c.1856A>C
2 papers
NM_004366.6
p.E619Splc
c.1856-3C>T
1 paper
NM_004366.6
p.S641I
c.1922G>T
8 papers
NM_004366.6
p.R644C
c.1930C>T
1 paper
NM_004366.6
p.R644H
c.1931G>A
1 paper
NM_004366.6
p.R645Q
c.1934G>A
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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."