Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.T244I

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
5 papers
NM_004070.4
p.T244I
c.731C>T
Surrounding Variants
1 paper
NM_004070.4
p.T244N
c.731C>A
3 papers
NM_004070.4
p.G246R
c.736G>A
3 papers
NM_004070.4
p.G246R
c.736G>C
3 papers
NM_004070.4
p.A242E
c.725C>A
1 paper
NM_004070.4
p.A243delFs
c.727delG
1 paper
NM_004070.4
p.F241I
c.721T>A
1 paper
NM_004070.4
p.L252F
c.754C>T
2 papers
NM_004070.4
p.A254V
c.761C>T
1 paper
NM_004070.4
p.S258G
c.772A>G
1 paper
NM_004070.4
p.E259Q
c.775G>C
1 paper
NM_004070.4
p.E259A
c.776A>C
1 paper
NM_004070.4
p.E259D
c.777G>C
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