Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Q23*

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.Q23*
c.67C>T
Surrounding Variants
1 paper
NM_000083.3
p.Y22Y
c.66C>T
1 paper
NM_000083.3
p.P20P
c.60C>A
2 papers
NM_000083.3
p.P20H
c.59C>A
1 paper
NM_000083.3
p.P26S
c.76C>T
1 paper
NM_000083.3
p.P20_Y22del3
c.58_65del9
1 paper
NM_000083.3
p.F27Y
c.80T>A
1 paper
NM_000083.3
p.S18T
c.53G>C
2 papers
NM_000083.3
p.S18G
c.52A>G
2 papers
NM_000083.3
p.S18fs
c.52_53fs
1 paper
NM_000083.3
p.H29_L35del7
c.85_104del21
7 papers
NM_000083.3
p.H29P
c.86A>C
1 paper
NM_000083.3
p.W16*
c.48G>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."