Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.G47R

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.G47R
c.139G>A
Surrounding Variants
4 papers
NM_004070.4
p.G47R
c.139G>C
1 paper
NM_004070.4
p.G47E
c.140G>A
1 paper
NM_004070.4
p.E48insFs
c.143dupA
1 paper
NM_004070.4
p.R45C
c.133C>T
1 paper
NM_004070.4
p.K42N
c.126G>C
1 paper
NM_004070.4
p.Q41P
c.122A>C
1 paper
NM_004070.4
p.L53Q
c.158T>A
2 papers
NM_004070.4
p.E37K
c.109G>A
1 paper
NM_004070.4
p.G57V
c.170G>T
1 paper
NM_004070.4
p.V58L
c.172G>C
1 paper
NM_004070.4
p.V58L
c.172G>T
1 paper
NM_004070.4
p.L59_S64delFs
c.176_191del16
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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."