Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4

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
1–12 of 275 variants
13 papers
NM_001830.4
p.G544R
c.1630G>C
12 papers
NM_001830.4
p.G544R
c.1630G>A
11 papers
NM_001830.4
p.R718W
c.2152C>T
10 papers
NM_001830.4
p.V275M
c.823G>A
10 papers
NM_001830.4
p.V536M
c.1606G>A
9 papers
NM_001830.4
p.L221V
c.661C>G
8 papers
NM_001830.4
p.S534L
c.1601C>T
7 papers
NM_001830.4
p.E224A
c.671A>C
7 papers
NM_001830.4
p.A555V
c.1664C>T
6 papers
NM_001830.4
p.D15N
c.43G>A
6 papers
NM_001830.4
p.D15fs
c.43_44fs
6 papers
NM_001830.4
p.G78S
c.232G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."