Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.L577P

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.L577P
c.1730T>C
Surrounding Variants
1 paper
NM_000083.3
p.Y578H
c.1732T>C
2 papers
NM_000083.3
p.Y578F
c.1733A>T
3 papers
NM_000083.3
p.S576F
c.1727C>T
14 papers
NM_000083.3
p.P575S
c.1723C>T
2 papers
NM_000083.3
p.Q574K
c.1720C>A
1 paper
NM_000083.3
p.Q574*
c.1720C>T
6 papers
NM_000083.3
p.I582F
c.1744A>T
2 papers
NM_000083.3
p.Q571R
c.1712A>G
2 papers
NM_000083.3
p.Q583R
c.1748A>G
1 paper
NM_000083.3
p.K585_Y589del5
c.1753_1766del15
2 papers
NM_000083.3
p.K585E
c.1753A>G
5 papers
NM_000083.3
p.N567K
c.1701C>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."