Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Q43*

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
2 papers
NM_000083.3
p.Q43*
c.127C>T
Surrounding Variants
5 papers
NM_000083.3
p.Q43R
c.128A>G
1 paper
NM_000083.3
p.Q43L
c.128A>T
1 paper
NM_000083.3
p.G41A
c.122G>C
1 paper
NM_000083.3
p.N39K
c.117T>A
1 paper
NM_000083.3
p.N39K
c.117T>G
1 paper
NM_000083.3
p.N39S
c.116A>G
2 papers
NM_000083.3
p.L46L
c.138C>T
1 paper
NM_000083.3
p.R47G
c.139C>G
13 papers
NM_000083.3
p.R47W
c.139C>T
1 paper
NM_000083.3
p.R47_K48del1
c.140_142delGGA
1 paper
NM_000083.3
p.E38K
c.112G>A
1 paper
NM_000083.3
p.G51A
c.152G>C
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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."