Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.V536L

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
6 papers
NM_000083.3
p.V536L
c.1606G>C
Surrounding Variants
4 papers
NM_000083.3
p.V536I
c.1606G>A
5 papers
NM_000083.3
p.A535D
c.1604C>A
3 papers
NM_000083.3
p.S537T
c.1609T>A
1 paper
NM_000083.3
p.S537A
c.1609T>G
1 paper
NM_000083.3
p.S537C
c.1610C>G
3 papers
NM_000083.3
p.S537F
c.1610C>T
1 paper
NM_000083.3
p.G534S
c.1600G>A
5 papers
NM_000083.3
p.T533I
c.1598C>T
8 papers
NM_000083.3
p.T539A
c.1615A>G
1 paper
NM_000083.3
p.L532delFs
c.1594delC
1 paper
NM_000083.3
p.V540A
c.1619T>C
2 papers
NM_000083.3
p.A531E
c.1592C>A
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."