Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.W595R

CLCN1

645 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 171–571UCSCVoltage gated chloride channel

Gene Aliases

HGNC Name

chloride voltage-gated channel 1

HGNC Alias Symbols

CLC1; ClC-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000083.3
p.W595R
c.1783T>A
Surrounding Variants
1 paper
NM_000083.3
p.W595R
c.1783T>C
3 papers
NM_000083.3
p.W595*
c.1784G>A
4 papers
NM_000083.3
p.W595*
c.1785G>A
1 paper
NM_000083.3
p.W595C
c.1785G>C
2 papers
NM_000083.3
p.G594V
c.1781G>T
1 paper
NM_000083.3
p.W595C
c.1785G>T
3 papers
NM_000083.3
p.D592A
c.1775A>C
1 paper
NM_000083.3
p.L590*
c.1769T>A
1 paper
NM_000083.3
p.Y589C
c.1766A>G
1 paper
NM_000083.3
p.Y589D
c.1765T>G
2 papers
NM_000083.3
p.L587V
c.1759C>G
2 papers
NM_000083.3
p.K585E
c.1753A>G
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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."