Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.K585_Y589del5

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.K585_Y589del5
c.1753_1766del15
Surrounding Variants
2 papers
NM_000083.3
p.K585E
c.1753A>G
2 papers
NM_000083.3
p.Q583R
c.1748A>G
6 papers
NM_000083.3
p.I582F
c.1744A>T
2 papers
NM_000083.3
p.L587V
c.1759C>G
1 paper
NM_000083.3
p.Y589D
c.1765T>G
1 paper
NM_000083.3
p.Y589C
c.1766A>G
2 papers
NM_000083.3
p.Y578F
c.1733A>T
1 paper
NM_000083.3
p.L590*
c.1769T>A
1 paper
NM_000083.3
p.Y578H
c.1732T>C
1 paper
NM_000083.3
p.L577P
c.1730T>C
3 papers
NM_000083.3
p.D592A
c.1775A>C
3 papers
NM_000083.3
p.S576F
c.1727C>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."