Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.E653Q

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.E653Q
c.1957G>C
Surrounding Variants
2 papers
NM_001830.4
p.R652T
c.1955G>C
2 papers
NM_001830.4
p.I655V
c.1963A>G
1 paper
NM_001830.4
p.I646T
c.1937T>C
1 paper
NM_001830.4
p.V637M
c.1909G>A
1 paper
NM_001830.4
p.V637L
c.1909G>C
1 paper
NM_001830.4
p.V637L
c.1909G>T
2 papers
NM_001830.4
p.V636M
c.1906G>A
3 papers
NM_001830.4
p.P635R
c.1904C>G
1 paper
NM_001830.4
p.P635A
c.1903C>G
1 paper
NM_001830.4
p.Y631F
c.1892A>T
2 papers
NM_001830.4
p.T629I
c.1886C>T
1 paper
NM_001830.4
p.I626fs
c.1876_1877fs
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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."