Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.R694W

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.R694W
c.2080C>T
Surrounding Variants
1 paper
NM_001830.4
p.R694Q
c.2081G>A
1 paper
NM_001830.4
p.H689delFs
c.2066_2067delAT
1 paper
NM_001830.4
p.P688S
c.2062C>T
3 papers
NM_001830.4
p.E682K
c.2044G>A
1 paper
NM_001830.4
p.P681P
c.2043C>T
1 paper
NM_001830.4
p.H707Y
c.2119C>T
1 paper
NM_001830.4
p.P680insFs
c.2038dupC
1 paper
NM_001830.4
p.P709S
c.2125C>T
1 paper
NM_001830.4
p.E679fs
c.2035_2036fs
2 papers
NM_001830.4
p.T677M
c.2030C>T
1 paper
NM_001830.4
p.F676V
c.2026T>G
1 paper
NM_001830.4
p.Y675*
c.2025C>A
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