Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.E136G

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.E136G
c.407A>G
Surrounding Variants
1 paper
NM_004070.4
p.E136E
c.408G>A
1 paper
NM_004070.4
p.E136*
c.406G>T
1 paper
NM_004070.4
p.D137N
c.409G>A
1 paper
NM_004070.4
p.I134F
c.400A>T
3 papers
NM_004070.4
p.L139P
c.416T>C
1 paper
NM_004070.4
p.G145W
c.433G>T
1 paper
NM_004070.4
p.L126V
c.376C>G
1 paper
NM_004070.4
p.E125Q
c.373G>C
1 paper
NM_004070.4
p.P124Q
c.371C>A
5 papers
NM_004070.4
p.P124L
c.371C>T
1 paper
NM_004070.4
p.V149E
c.446T>A
1 paper
NM_004070.4
p.G122fs
c.364_365fs
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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."