Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.W80C

CLCNKA

239 papers

RefSeq Summary

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a func...

Pfam Domains

Voltage_CLCaa 101–513UCSCVoltage gated chloride channel
CBSaa 547–605UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel Ka

HGNC Alias Symbols

hClC-Ka; ClC-K1; CLCK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004070.4
p.W80C
c.240G>C
Surrounding Variants
1 paper
NM_004070.4
p.W80*
c.240G>A
3 papers
NM_004070.4
p.W80C
c.240G>T
1 paper
NM_004070.4
p.W80*
c.239G>A
2 papers
NM_004070.4
p.L81P
c.242T>C
23 papers
NM_004070.4
p.R83G
c.247A>G
2 papers
NM_004070.4
p.Q79delFs
c.235delC
1 paper
NM_004070.4
p.A77Splc
c.230-2A>C
1 paper
NM_004070.4
p.I85T
c.254T>C
2 papers
NM_004070.4
p.R92W
c.274C>T
1 paper
NM_004070.4
p.L94F
c.280C>T
1 paper
NM_004070.4
p.Y99H
c.295T>C
1 paper
NM_004070.4
p.Y99C
c.296A>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."