Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.T220P

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.T220P
c.658A>C
Surrounding Variants
2 papers
NM_000083.3
p.A221E
c.662C>A
3 papers
NM_000083.3
p.A218V
c.653C>T
3 papers
NM_000083.3
p.A221A
c.663G>A
10 papers
NM_000083.3
p.A218T
c.652G>A
5 papers
NM_000083.3
p.G222S
c.664G>A
1 paper
NM_000083.3
p.G222R
c.664G>C
1 paper
NM_000083.3
p.V217V
c.651C>T
1 paper
NM_000083.3
p.G222D
c.665G>A
3 papers
NM_000083.3
p.V217D
c.650T>A
1 paper
NM_000083.3
p.V216A
c.647T>C
1 paper
NM_000083.3
p.K215N
c.645G>C
1 paper
NM_000083.3
p.K215N
c.645G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."