Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.V275M

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
10 papers
NM_001830.4
p.V275M
c.823G>A
Surrounding Variants
3 papers
NM_001830.4
p.V275L
c.823G>C
3 papers
NM_001830.4
p.V275L
c.823G>T
3 papers
NM_001830.4
p.L276F
c.826C>T
1 paper
NM_001830.4
p.L276P
c.827T>C
1 paper
NM_001830.4
p.S278delFs
c.832delA
1 paper
NM_001830.4
p.S278R
c.832A>C
1 paper
NM_001830.4
p.I272V
c.814A>G
1 paper
NM_001830.4
p.S278fs
c.832_833fs
1 paper
NM_001830.4
p.S278R
c.834T>A
1 paper
NM_001830.4
p.S278R
c.834T>G
3 papers
NM_001830.4
p.L279V
c.835C>G
2 papers
NM_001830.4
p.E280D
c.840A>C
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