Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R653T

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
3 papers
NM_004366.6
p.R653T
c.1958G>C
Surrounding Variants
1 paper
NM_004366.6
p.R653*
c.1957A>T
1 paper
NM_004366.6
p.R652C
c.1954C>T
1 paper
NM_004366.6
p.T657I
c.1970C>T
1 paper
NM_004366.6
p.P659S
c.1975C>T
1 paper
NM_004366.6
p.Q647L
c.1940A>T
3 papers
NM_004366.6
p.R646Q
c.1937G>A
1 paper
NM_004366.6
p.R645ins1
c.1933_1934insCGC
1 paper
NM_004366.6
p.R645Q
c.1934G>A
1 paper
NM_004366.6
p.R644H
c.1931G>A
8 papers
NM_004366.6
p.R644C
c.1930C>T
3 papers
NM_004366.6
p.E664V
c.1991A>T
1 paper
NM_004366.6
p.S641I
c.1922G>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."