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

1 paper

NM_001286.5

p.G297fs

c.889_890fs

Surrounding Variants

1 paper

NM_001256959.2

p.R273H

c.818G>A

1 paper

NM_001256959.2

p.F271C

c.812T>G

2 papers

NM_001256959.2

p.E294K

c.880G>A

NM_001286.5

p.E316K

c.946G>A

1 paper

NM_001286.5

p.F317Y

c.950T>A

2 papers

NM_001286.5

p.C319Y

c.956G>A

1 paper

NM_001286.5

p.D323G

c.968A>G

1 paper

NM_001256959.2

p.V316I

c.946G>A

1 paper

NM_001256959.2

p.G319E

c.956G>A

1 paper

NM_001286.5

p.I343T

c.1028T>C

1 paper

NM_001286.5

p.G344R

c.1030G>A

1 paper

NM_001286.5

p.L346V

c.1036C>G

1 paper

NM_001286.5

p.A349T

c.1045G>A