Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Q160H

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
6 papers
NM_000083.3
p.Q160H
c.480G>C
Surrounding Variants
6 papers
NM_000083.3
p.Q160H
c.480G>T
8 papers
NM_000083.3
p.F161V
c.481T>G
3 papers
NM_000083.3
p.Q160*
c.478C>T
1 paper
NM_000083.3
p.L159fs
c.475_476fs
2 papers
NM_000083.3
p.L159fs
c.475_476fs
3 papers
NM_000083.3
p.L159delFs
c.475delC
5 papers
NM_000083.3
p.W164R
c.490T>A
6 papers
NM_000083.3
p.W164R
c.490T>C
1 paper
NM_000083.3
p.L157R
c.470T>G
1 paper
NM_000083.3
p.L157fs
c.469_470fs
1 paper
NM_000083.3
p.W164*
c.491G>A
1 paper
NM_000083.3
p.W164*
c.492G>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."