Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.T196delFs

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
1 paper
NM_000083.3
p.T196delFs
c.587delC
Surrounding Variants
1 paper
NM_000083.3
p.T196fs
c.586_587fs
1 paper
NM_000083.3
p.K195fs
c.583_584fs
1 paper
NM_000083.3
p.K195_I197delFs
c.585_589del5
2 papers
NM_000083.3
p.I197K
c.590T>A
1 paper
NM_000083.3
p.I197T
c.590T>C
4 papers
NM_000083.3
p.I197R
c.590T>G
1 paper
NM_000083.3
p.M194T
c.581T>C
9 papers
NM_000083.3
p.L198V
c.592C>G
3 papers
NM_000083.3
p.L198H
c.593T>A
9 papers
NM_000083.3
p.L198P
c.593T>C
1 paper
NM_000083.3
p.R199C
c.595C>T
10 papers
NM_000083.3
p.E193K
c.577G>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."