Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.S191I

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.S191I
c.572G>T
Surrounding Variants
1 paper
NM_001830.4
p.L190F
c.570G>C
1 paper
NM_001830.4
p.L190F
c.570G>T
1 paper
NM_001830.4
p.I195F
c.583A>T
1 paper
NM_001830.4
p.R196K
c.587G>A
1 paper
NM_001830.4
p.G200E
c.599G>A
1 paper
NM_001830.4
p.K201E
c.601A>G
1 paper
NM_001830.4
p.T203N
c.608C>A
4 papers
NM_001830.4
p.T203I
c.608C>T
1 paper
NM_001830.4
p.L211L
c.631C>T
4 papers
NM_001830.4
p.V212G
c.635T>G
1 paper
NM_001256944.2
p.S123T
c.367T>A
1 paper
NM_001256944.2
p.S123P
c.367T>C
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