Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.N579K

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.N579K
c.1737T>A
Surrounding Variants
1 paper
NM_001830.4
p.N579K
c.1737T>G
1 paper
NM_001830.4
p.P582delins
c.1744_1745delinsAA
1 paper
NM_001830.4
p.D585G
c.1754A>G
1 paper
NM_001830.4
p.V586A
c.1757T>C
1 paper
NM_001830.4
p.Y572Y
c.1716C>T
1 paper
NM_001830.4
p.V586V
c.1758G>A
1 paper
NM_001830.4
p.Y572F
c.1715A>T
1 paper
NM_001830.4
p.Y572D
c.1714T>G
1 paper
NM_001830.4
p.D588Y
c.1762G>T
2 papers
NM_001830.4
p.K560E
c.1678A>G
1 paper
NM_001830.4
p.T558P
c.1672A>C
2 papers
NM_001830.4
p.R603W
c.1807C>T
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