Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.M485V

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
42 papers
NM_000083.3
p.M485V
c.1453A>G
Surrounding Variants
11 papers
NM_000083.3
p.F484L
c.1452C>A
11 papers
NM_000083.3
p.F484L
c.1452C>G
2 papers
NM_000083.3
p.M485K
c.1454T>A
2 papers
NM_000083.3
p.F484C
c.1451T>G
11 papers
NM_000083.3
p.F484L
c.1450T>C
1 paper
NM_000083.3
p.G483A
c.1448G>C
2 papers
NM_000083.3
p.G483S
c.1447G>A
1 paper
NM_000083.3
p.V487A
c.1460T>C
4 papers
NM_000083.3
p.G482E
c.1445G>A
2 papers
NM_000083.3
p.G482A
c.1445G>C
30 papers
NM_000083.3
p.G482R
c.1444G>A
30 papers
NM_000083.3
p.G482R
c.1444G>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."