Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.L79P

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.L79P
c.236T>C
Surrounding Variants
6 papers
NM_001830.4
p.G78S
c.232G>A
1 paper
NM_001830.4
p.V72M
c.214G>A
1 paper
NM_001830.4
p.W71*
c.212G>A
2 papers
NM_001830.4
p.S69L
c.206C>T
3 papers
NM_001830.4
p.K62R
c.185A>G
1 paper
NM_001830.4
p.E59ins1
c.175_176insTAA
1 paper
NM_001830.4
p.S56F
c.167C>T
1 paper
NM_001830.4
p.S53N
c.158G>A
1 paper
NM_001830.4
p.S53_E59del0
c.159_176del18
1 paper
NM_001830.4
p.I49N
c.146T>A
1 paper
NM_001830.4
p.T43A
c.127A>G
1 paper
NM_001830.4
p.R41Q
c.122G>A
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