Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7

CLCN7

350 papers

RefSeq Summary

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chlori...

Pfam Domains

Voltage_CLCaa 184–595UCSCVoltage gated chloride channel
CBSaa 737–793UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 7

HGNC Alias Symbols

CLC-7; OPTA2; CLC7; ClC-7; PPP1R63

Papers
RefSeq ID
Protein change
DNA change
1–12 of 399 variants
63 papers
NM_001287.6
p.G215R
c.643G>C
63 papers
NM_001287.6
p.G215R
c.643G>A
40 papers
NM_001287.6
p.R286W
c.856C>T
32 papers
NM_001287.6
p.R767W
c.2299C>T
25 papers
NM_001287.6
p.R286Q
c.857G>A
24 papers
NM_001287.6
p.Y715C
c.2144A>G
21 papers
NM_001287.6
p.P249L
c.746C>T
19 papers
NM_001287.6
p.V418M
c.1252G>A
17 papers
NM_001287.6
p.Y99C
c.296A>G
17 papers
NM_001287.6
p.R762Q
c.2285G>A
16 papers
NM_001287.6
p.F318L
c.952T>C
16 papers
NM_001287.6
p.F318L
c.954C>G
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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."