Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.C179Y

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.C179Y
c.536G>A
Surrounding Variants
1 paper
NM_000083.3
p.C179S
c.536G>C
2 papers
NM_000083.3
p.C179W
c.537C>G
1 paper
NM_000083.3
p.C179S
c.535T>A
1 paper
NM_000083.3
p.I182V
c.544A>G
1 paper
NM_000083.3
p.I182I
c.546C>A
1 paper
NM_000083.3
p.I182M
c.546C>G
4 papers
NM_000083.3
p.S183P
c.547T>C
1 paper
NM_000083.3
p.P184R
c.551C>G
3 papers
NM_000083.3
p.L171R
c.512T>G
2 papers
NM_000083.3
p.L171I
c.511C>A
2 papers
NM_000083.3
p.G188C
c.562G>T
5 papers
NM_000083.3
p.G188A
c.563G>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."