Varaico: Literature-Extracted Genetic Variants

CLCN6

151 papers

RefSeq Summary

This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized...

Pfam Domains

Voltage_CLCaa 139–569UCSCVoltage gated chloride channel

CBSaa 601–643UCSCCBS domain

CBSaa 801–858UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 6

HGNC Alias Symbols

CLC-6; KIAA0046; ClC-6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_001286.5

p.E200A

c.599A>C

NM_001256959.2

p.E178A

c.533A>C

Surrounding Variants

2 papers

NM_001286.5

p.G201D

c.602G>A

1 paper

NM_001286.5

p.K199E

c.595A>G

10 papers

NM_001286.5

p.E198G

c.593A>G

1 paper

NM_001286.5

p.L195_F196delFs

c.585_588del4

1 paper

NM_001286.5

p.L195fs

c.583_584fs

2 papers

NM_001286.5

p.S208L

c.623C>T

1 paper

NM_001286.5

p.S208S

c.624G>A

1 paper

NM_001286.5

p.C182Y

c.545G>A

1 paper

NM_001286.5

p.R178W

c.532C>T

1 paper

NM_001286.5

p.R176G

c.526C>G

1 paper

NM_001286.5

p.G173_I174delFs

c.519_522del4

1 paper

NM_001286.5

p.P172L

c.515C>T