Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.M7I

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
2 papers
NM_001830.4
p.M7I
c.21G>C
Surrounding Variants
2 papers
NM_001830.4
p.M7I
c.21G>A
2 papers
NM_001830.4
p.M7I
c.21G>T
1 paper
NM_001830.4
p.N3K
c.9T>A
1 paper
NM_001830.4
p.N3insFs
c.7dupA
2 papers
NM_001830.4
p.D15_E19delFs
c.43_55del13
1 paper
NM_001830.4
p.M1I
c.3G>A
1 paper
NM_001830.4
p.L13L
c.39G>C
1 paper
NM_001830.4
p.M1insFs
c.2dupT
6 papers
NM_001830.4
p.D15N
c.43G>A
1 paper
NM_001830.4
p.D15fs
c.43_44fs
6 papers
NM_001830.4
p.D15fs
c.43_44fs
1 paper
NM_001830.4
p.E19K
c.55G>A
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