Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.E224A

CLCN4

155 papers

RefSeq Summary

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence ho...

Pfam Domains

Voltage_CLCaa 163–564UCSCVoltage gated chloride channel
CBSaa 596–660UCSCCBS domain
CBSaa 693–748UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 4

HGNC Alias Symbols

CLC4; ClC-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001830.4
p.E224A
c.671A>C
Surrounding Variants
3 papers
NM_001830.4
p.P226L
c.677C>T
5 papers
NM_001830.4
p.L221P
c.662T>C
9 papers
NM_001830.4
p.L221V
c.661C>G
1 paper
NM_001830.4
p.S220N
c.659G>A
1 paper
NM_001830.4
p.L219fs
c.655_656fs
1 paper
NM_001256944.2
p.S123T
c.367T>A
1 paper
NM_001256944.2
p.S123P
c.367T>C
4 papers
NM_001830.4
p.V212G
c.635T>G
1 paper
NM_001830.4
p.L211L
c.631C>T
1 paper
NM_001830.4
p.F238L
c.712T>C
1 paper
NM_001830.4
p.F238L
c.714C>A
1 paper
NM_001830.4
p.F238L
c.714C>G
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