Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.S64C

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.S64C
c.190A>T
Surrounding Variants
1 paper
NM_004070.4
p.A61D
c.182C>A
1 paper
NM_004070.4
p.M67V
c.199A>G
6 papers
NM_004070.4
p.N68D
c.202A>G
1 paper
NM_004070.4
p.L59_S64delFs
c.176_191del16
1 paper
NM_004070.4
p.F69L
c.205T>C
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.V58L
c.172G>C
1 paper
NM_004070.4
p.V58L
c.172G>T
1 paper
NM_004070.4
p.G57V
c.170G>T
1 paper
NM_004070.4
p.I71V
c.211A>G
1 paper
NM_004070.4
p.G72E
c.215G>A
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