Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.P192S

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.P192S
c.574C>T
Surrounding Variants
1 paper
NM_000083.3
p.I191delFs
c.572delT
10 papers
NM_000083.3
p.E193K
c.577G>A
4 papers
NM_000083.3
p.E193*
c.577G>T
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
1 paper
NM_000083.3
p.S189S
c.567T>C
1 paper
NM_000083.3
p.M194T
c.581T>C
7 papers
NM_000083.3
p.S189C
c.566C>G
3 papers
NM_000083.3
p.S189F
c.566C>T
1 paper
NM_000083.3
p.K195_I197delFs
c.585_589del5
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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."