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.K224K

c.672G>A

Surrounding Variants

2 papers

NM_001286.5

p.R223Q

c.668G>A

2 papers

NM_001286.5

p.R223W

c.667C>T

1 paper

NM_001286.5

p.L222F

c.666A>C

1 paper

NM_001286.5

p.F227L

c.681T>G

1 paper

NM_001286.5

p.P230L

c.689C>T

1 paper

NM_001286.5

p.Q216_F217Splc

c.649-2A>G

1 paper

NM_001286.5

p.R233Q

c.698G>A

1 paper

NM_001286.5

p.R236Splc

c.708-9T>C

1 paper

NM_001286.5

p.D240A

c.719A>C

1 paper

NM_001286.5

p.A244T

c.730G>A

1 paper

NM_001286.5

p.A246V

c.737C>T

1 paper

NM_001286.5

p.A246A

c.738G>A

NM_001256959.2

p.A224A

c.672G>A