Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.Y315F

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
10 papers
NM_004070.4
p.Y315F
c.944A>T
Surrounding Variants
1 paper
NM_004070.4
p.Y315S
c.944A>C
1 paper
NM_004070.4
p.S316G
c.946A>G
4 papers
NM_004070.4
p.T312I
c.935C>T
1 paper
NM_004070.4
p.S308R
c.924C>A
1 paper
NM_004070.4
p.L307F
c.919C>T
2 papers
NM_004070.4
p.R304*
c.910C>T
3 papers
NM_004070.4
p.Q303P
c.908A>C
1 paper
NM_004070.4
p.C302Y
c.905G>A
1 paper
NM_004070.4
p.L300F
c.898C>T
1 paper
NM_004070.4
p.Y299C
c.896A>G
1 paper
NM_004070.4
p.V294L
c.880G>C
1 paper
NM_004070.4
p.G293S
c.877G>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."