Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.A531V

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
43 papers
NM_000083.3
p.A531V
c.1592C>T
Surrounding Variants
2 papers
NM_000083.3
p.A531E
c.1592C>A
1 paper
NM_000083.3
p.L532delFs
c.1594delC
1 paper
NM_000083.3
p.A529E
c.1586C>A
5 papers
NM_000083.3
p.T533I
c.1598C>T
4 papers
NM_000083.3
p.A529V
c.1586C>T
1 paper
NM_000083.3
p.G534S
c.1600G>A
1 paper
NM_000083.3
p.G528A
c.1583G>C
1 paper
NM_000083.3
p.G528_A529delFs
c.1584_1587del4
5 papers
NM_000083.3
p.A535D
c.1604C>A
4 papers
NM_000083.3
p.V536I
c.1606G>A
6 papers
NM_000083.3
p.V536L
c.1606G>C
3 papers
NM_000083.3
p.S537T
c.1609T>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."