Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.A447T

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
20 papers
NM_004070.4
p.A447T
c.1339G>A
Surrounding Variants
1 paper
NM_004070.4
p.A445_A447delins
c.1335_1339delinsGGTCA
1 paper
NM_004070.4
p.A445V
c.1334C>T
2 papers
NM_004070.4
p.E442G
c.1325A>G
2 papers
NM_004070.4
p.L439P
c.1316T>C
1 paper
NM_004070.4
p.G455E
c.1364G>A
4 papers
NM_004070.4
p.R438H
c.1313G>A
8 papers
NM_004070.4
p.R438C
c.1312C>T
2 papers
NM_004070.4
p.G437R
c.1309G>A
1 paper
NM_004070.4
p.V457I
c.1369G>A
2 papers
NM_004070.4
p.G437R
c.1309G>C
1 paper
NM_004070.4
p.V457delins
c.1369_1371delinsATC
1 paper
NM_004070.4
p.T458N
c.1373C>A
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