Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.E259Q

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
1 paper
NM_004070.4
p.E259Q
c.775G>C
Surrounding Variants
1 paper
NM_004070.4
p.E259A
c.776A>C
1 paper
NM_004070.4
p.E259D
c.777G>C
1 paper
NM_004070.4
p.E259D
c.777G>T
1 paper
NM_004070.4
p.S258G
c.772A>G
7 papers
NM_004070.4
p.Q260*
c.778C>T
1 paper
NM_004070.4
p.E261K
c.781G>A
2 papers
NM_004070.4
p.E261Q
c.781G>C
2 papers
NM_004070.4
p.E261Splc
c.781+1G>A
1 paper
NM_004070.4
p.E261Splc
c.781+1G>C
2 papers
NM_004070.4
p.A254V
c.761C>T
1 paper
NM_004070.4
p.L252F
c.754C>T
3 papers
NM_004070.4
p.G246R
c.736G>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."