Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E232_G233Splc

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
7 papers
NM_000083.3
p.E232_G233Splc
c.696+2T>A
Surrounding Variants
2 papers
NM_000083.3
p.E232_G233Splc
c.696+1G>A
2 papers
NM_000083.3
p.E232_G233Splc
c.696+1G>T
1 paper
NM_000083.3
p.E232E
c.696G>A
1 paper
NM_000083.3
p.E232A
c.695A>C
1 paper
NM_000083.3
p.E232K
c.694G>A
3 papers
NM_000083.3
p.E232Q
c.694G>C
68 papers
NM_000083.3
p.G230E
c.689G>A
1 paper
NM_000083.3
p.G230A
c.689G>C
3 papers
NM_000083.3
p.G230V
c.689G>T
1 paper
NM_000083.3
p.G230R
c.688G>A
1 paper
NM_000083.3
p.G230R
c.688G>C
7 papers
NM_000083.3
p.V229M
c.685G>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."