Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.F238L

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
1 paper
NM_001830.4
p.F238L
c.712T>C
Surrounding Variants
1 paper
NM_001830.4
p.F238L
c.714C>A
1 paper
NM_001830.4
p.F238L
c.714C>G
1 paper
NM_001830.4
p.S240C
c.718A>T
1 paper
NM_001830.4
p.K247insFs
c.740dupA
3 papers
NM_001830.4
p.P226L
c.677C>T
1 paper
NM_001830.4
p.E249E
c.747G>A
7 papers
NM_001830.4
p.E224A
c.671A>C
1 paper
NM_001830.4
p.R253Q
c.758G>A
1 paper
NM_001830.4
p.E254E
c.762G>A
1 paper
NM_001830.4
p.E254D
c.762G>C
5 papers
NM_001830.4
p.L221P
c.662T>C
9 papers
NM_001830.4
p.L221V
c.661C>G
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