Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.I71V

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.I71V
c.211A>G
Surrounding Variants
1 paper
NM_004070.4
p.G72E
c.215G>A
1 paper
NM_004070.4
p.F69L
c.207T>A
1 paper
NM_004070.4
p.F69L
c.207T>G
1 paper
NM_004070.4
p.F69L
c.205T>C
1 paper
NM_004070.4
p.C73Y
c.218G>A
6 papers
NM_004070.4
p.N68D
c.202A>G
1 paper
NM_004070.4
p.M67V
c.199A>G
3 papers
NM_004070.4
p.R76*
c.226C>T
1 paper
NM_004070.4
p.R76L
c.227G>T
1 paper
NM_004070.4
p.R76R
c.228A>C
2 papers
NM_004070.4
p.A77T
c.229G>A
2 papers
NM_004070.4
p.A77P
c.229G>C
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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."