Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.W303*

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
4 papers
NM_000083.3
p.W303*
c.908G>A
Surrounding Variants
3 papers
NM_000083.3
p.W303*
c.909G>A
9 papers
NM_000083.3
p.W303R
c.907T>A
9 papers
NM_000083.3
p.W303R
c.907T>C
3 papers
NM_000083.3
p.Y302C
c.905A>G
2 papers
NM_000083.3
p.R304S
c.912A>C
2 papers
NM_000083.3
p.R304S
c.912A>T
3 papers
NM_000083.3
p.Y302H
c.904T>C
1 paper
NM_000083.3
p.G305R
c.913G>A
1 paper
NM_000083.3
p.G305R
c.913G>C
3 papers
NM_000083.3
p.G305E
c.914G>A
7 papers
NM_000083.3
p.F306L
c.916T>C
13 papers
NM_000083.3
p.R300Q
c.899G>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."