Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E193K

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
10 papers
NM_000083.3
p.E193K
c.577G>A
Surrounding Variants
4 papers
NM_000083.3
p.E193*
c.577G>T
1 paper
NM_000083.3
p.P192S
c.574C>T
1 paper
NM_000083.3
p.M194T
c.581T>C
1 paper
NM_000083.3
p.K195_I197delFs
c.585_589del5
1 paper
NM_000083.3
p.K195fs
c.583_584fs
1 paper
NM_000083.3
p.I191delFs
c.572delT
1 paper
NM_000083.3
p.T196delFs
c.587delC
1 paper
NM_000083.3
p.T196fs
c.586_587fs
11 papers
NM_000083.3
p.G190R
c.568G>A
12 papers
NM_000083.3
p.G190R
c.568G>C
3 papers
NM_000083.3
p.G190*
c.568G>T
5 papers
NM_000083.3
p.G190delins
c.568_569delinsTC
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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."