Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.F413C

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
64 papers
NM_000083.3
p.F413C
c.1238T>G
Surrounding Variants
12 papers
NM_000083.3
p.Q412P
c.1235A>C
11 papers
NM_000083.3
p.A415V
c.1244C>T
5 papers
NM_000083.3
p.G411C
c.1231G>T
4 papers
NM_000083.3
p.G416E
c.1247G>A
1 paper
NM_000083.3
p.E417Q
c.1249G>C
6 papers
NM_000083.3
p.E417G
c.1250A>G
4 papers
NM_000083.3
p.E417V
c.1250A>T
3 papers
NM_000083.3
p.E417_L418Splc
c.1251+1G>A
5 papers
NM_000083.3
p.P408L
c.1223C>T
1 paper
NM_000083.3
p.P408T
c.1222C>A
5 papers
NM_000083.3
p.P408A
c.1222C>G
1 paper
NM_000083.3
p.E417_L418Splc
c.1251+4A>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."