Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.P607S

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
2 papers
NM_001830.4
p.P607S
c.1819C>T
Surrounding Variants
1 paper
NM_001830.4
p.P607A
c.1819C>G
2 papers
NM_001830.4
p.R603W
c.1807C>T
1 paper
NM_001830.4
p.E620K
c.1858G>A
1 paper
NM_001830.4
p.D621G
c.1862A>G
5 papers
NM_001830.4
p.L625F
c.1873C>T
1 paper
NM_001830.4
p.L625P
c.1874T>C
2 papers
NM_001830.4
p.I626insFs
c.1876dupA
1 paper
NM_001830.4
p.I626fs
c.1876_1877fs
1 paper
NM_001830.4
p.I626delFs
c.1877_1878delTC
6 papers
NM_001830.4
p.I626fs
c.1876_1877fs
1 paper
NM_001830.4
p.D588Y
c.1762G>T
1 paper
NM_001830.4
p.V586V
c.1758G>A
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