Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.G247W

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.G247W
c.739G>T
Surrounding Variants
3 papers
NM_004366.6
p.G247R
c.739G>C
3 papers
NM_004366.6
p.G247R
c.739G>A
1 paper
NM_004366.6
p.V246M
c.736G>A
2 papers
NM_004366.6
p.C244Y
c.731G>A
2 papers
NM_004366.6
p.A243T
c.727G>A
2 papers
NM_004366.6
p.F252S
c.755T>C
1 paper
NM_004366.6
p.L240P
c.719T>C
1 paper
NM_004366.6
p.L240L
c.718C>T
1 paper
NM_004366.6
p.E238A
c.713A>C
12 papers
NM_004366.6
p.R235Q
c.704G>A
1 paper
NM_004366.6
p.N232fs
c.694_695fs
1 paper
NM_004366.6
p.E231_N232Splc
c.694-11A>C
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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."