Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.L720delFs

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.L720delFs
c.2159_2160delTG
Surrounding Variants
1 paper
NM_001830.4
p.R718Q
c.2153G>A
11 papers
NM_001830.4
p.R718W
c.2152C>T
5 papers
NM_001830.4
p.R723W
c.2167C>T
1 paper
NM_001830.4
p.T728S
c.2182A>T
1 paper
NM_001830.4
p.P709S
c.2125C>T
6 papers
NM_001830.4
p.G731R
c.2191G>A
6 papers
NM_001830.4
p.G731R
c.2191G>C
1 paper
NM_001830.4
p.G731W
c.2191G>T
1 paper
NM_001830.4
p.G731V
c.2192G>T
1 paper
NM_001830.4
p.H707Y
c.2119C>T
1 paper
NM_001830.4
p.R694Q
c.2081G>A
1 paper
NM_001830.4
p.R694W
c.2080C>T
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