Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Y146fs

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.Y146fs
c.436_437fs
Surrounding Variants
7 papers
NM_000083.3
p.Y146F
c.437A>T
3 papers
NM_000083.3
p.Y146insFs
c.436_437ins4
1 paper
NM_000083.3
p.A145ins1
c.434_435insGCA
1 paper
NM_000083.3
p.S149C
c.446C>G
1 paper
NM_000083.3
p.S149F
c.446C>T
15 papers
NM_000083.3
p.Y150C
c.449A>G
5 papers
NM_000083.3
p.Y150*
c.450C>A
4 papers
NM_000083.3
p.Y150*
c.450C>G
1 paper
NM_000083.3
p.A151E
c.452C>A
1 paper
NM_000083.3
p.A151G
c.452C>G
3 papers
NM_000083.3
p.Q154R
c.461A>G
1 paper
NM_000083.3
p.P155P
c.465C>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."