Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.K39N

CLCN4

155 papers

RefSeq Summary

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence ho...

Pfam Domains

Voltage_CLCaa 163–564UCSCVoltage gated chloride channel
CBSaa 596–660UCSCCBS domain
CBSaa 693–748UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 4

HGNC Alias Symbols

CLC4; ClC-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001830.4
p.K39N
c.117G>C
Surrounding Variants
1 paper
NM_001830.4
p.K39N
c.117G>T
1 paper
NM_001830.4
p.S40S
c.120A>T
1 paper
NM_001830.4
p.R41W
c.121C>T
1 paper
NM_001830.4
p.R41Q
c.122G>A
1 paper
NM_001830.4
p.T43A
c.127A>G
1 paper
NM_001830.4
p.L36L
c.106C>T
1 paper
NM_001830.4
p.W35L
c.104G>T
3 papers
NM_001830.4
p.D34N
c.100G>A
1 paper
NM_001830.4
p.T32I
c.95C>T
1 paper
NM_001830.4
p.H31delFs
c.91delC
3 papers
NM_001830.4
p.D29E
c.87C>A
4 papers
NM_001830.4
p.D29E
c.87C>G
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