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

5 papers

NM_001286.5

p.E267A

c.800A>C

Surrounding Variants

1 paper

NM_001286.5

p.E266A

c.797A>C

1 paper

NM_001286.5

p.F271C

c.812T>G

2 papers

NM_001286.5

p.V250I

c.748G>A

1 paper

NM_001256959.2

p.A226V

c.677C>T

1 paper

NM_001286.5

p.A246A

c.738G>A

NM_001256959.2

p.A224A

c.672G>A

1 paper

NM_001286.5

p.A246V

c.737C>T

1 paper

NM_001286.5

p.A244T

c.730G>A

1 paper

NM_001286.5

p.D240A

c.719A>C

1 paper

NM_001286.5

p.R236Splc

c.708-9T>C

1 paper

NM_001256959.2

p.F271C

c.812T>G

1 paper

NM_001256959.2

p.R273H

c.818G>A

1 paper

NM_001286.5

p.G297fs

c.889_890fs