Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.G228D

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.G228D
c.683G>A
Surrounding Variants
1 paper
NM_004366.6
p.Y230C
c.689A>G
1 paper
NM_004366.6
p.E231E
c.693G>A
1 paper
NM_004366.6
p.L225F
c.673C>T
2 papers
NM_004366.6
p.F222_L223delFs
c.665_669del5
1 paper
NM_004366.6
p.E231_N232Splc
c.693+2T>G
1 paper
NM_004366.6
p.L223fs
c.667_668fs
1 paper
NM_004366.6
p.F222L
c.666C>G
1 paper
NM_004366.6
p.F222L
c.666C>A
1 paper
NM_004366.6
p.F222L
c.664T>C
1 paper
NM_004366.6
p.L218F
c.652C>T
1 paper
NM_004366.6
p.A212V
c.635C>T
1 paper
NM_004366.6
p.A212T
c.634G>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."