Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.P480L

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
41 papers
NM_000083.3
p.P480L
c.1439C>T
Surrounding Variants
7 papers
NM_000083.3
p.P480H
c.1439C>A
16 papers
NM_000083.3
p.P480T
c.1438C>A
8 papers
NM_000083.3
p.P480fs
c.1438_1439fs
5 papers
NM_000083.3
p.P480S
c.1438C>T
5 papers
NM_000083.3
p.P480fs
c.1438_1439fs
1 paper
NM_000083.3
p.C481S
c.1441T>A
2 papers
NM_000083.3
p.G482_G483del0
c.1444_1449del6
1 paper
NM_000083.3
p.C481S
c.1442G>C
1 paper
NM_000083.3
p.I479fs
c.1435_1436fs
17 papers
NM_000083.3
p.I479_F484delFs
c.1437_1450del14
10 papers
NM_000083.3
p.C481*
c.1443C>A
30 papers
NM_000083.3
p.G482R
c.1444G>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."