Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.A204T

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
7 papers
NM_004070.4
p.A204T
c.610G>A
Surrounding Variants
1 paper
NM_004070.4
p.A206P
c.616G>C
1 paper
NM_004070.4
p.L201delFs
c.602delT
1 paper
NM_004070.4
p.L201fs
c.601_602fs
1 paper
NM_004070.4
p.E199*
c.595G>T
3 papers
NM_004070.4
p.A210V
c.629C>T
1 paper
NM_004070.4
p.T211I
c.632C>T
1 paper
NM_004070.4
p.K196*
c.586A>T
1 paper
NM_004070.4
p.A214E
c.641C>A
1 paper
NM_004070.4
p.A214G
c.641C>G
2 papers
NM_004070.4
p.P216L
c.647C>T
1 paper
NM_004070.4
p.F217fs
c.649_650fs
1 paper
NM_004070.4
p.S218N
c.653G>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."