Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.G545A

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.G545A
c.1634G>C
Surrounding Variants
1 paper
NM_001830.4
p.G545D
c.1634G>A
2 papers
NM_001830.4
p.G545S
c.1633G>A
1 paper
NM_001830.4
p.G544A
c.1631G>C
12 papers
NM_001830.4
p.G544R
c.1630G>A
13 papers
NM_001830.4
p.G544R
c.1630G>C
1 paper
NM_001830.4
p.Y548Y
c.1644C>T
5 papers
NM_001830.4
p.I549L
c.1645A>C
4 papers
NM_001830.4
p.I549N
c.1646T>A
1 paper
NM_001830.4
p.V550M
c.1648G>A
2 papers
NM_001830.4
p.V550L
c.1648G>C
2 papers
NM_001830.4
p.V550L
c.1648G>T
1 paper
NM_001830.4
p.A554V
c.1661C>T
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