Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.I290M

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
38 papers
NM_000083.3
p.I290M
c.870C>G
Surrounding Variants
23 papers
NM_000083.3
p.E291K
c.871G>A
2 papers
NM_000083.3
p.E291Q
c.871G>C
2 papers
NM_000083.3
p.E291*
c.871G>T
2 papers
NM_000083.3
p.E291D
c.873G>C
2 papers
NM_000083.3
p.E291D
c.873G>T
3 papers
NM_000083.3
p.S289N
c.866G>A
3 papers
NM_000083.3
p.V292L
c.874G>C
2 papers
NM_000083.3
p.S289I
c.866G>T
2 papers
NM_000083.3
p.S289G
c.865A>G
1 paper
NM_000083.3
p.F288S
c.863T>C
1 paper
NM_000083.3
p.L287P
c.860T>C
2 papers
NM_000083.3
p.L287I
c.859C>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."