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

1–12 of 181 variants

12 papers

NM_001286.5

p.Y553C

c.1658A>G

10 papers

NM_001286.5

p.E198G

c.593A>G

10 papers

NM_001286.5

p.E200A

c.599A>C

6 papers

NM_001286.5

p.V580M

c.1738G>A

5 papers

NM_001286.5

p.E267A

c.800A>C

4 papers

NM_001286.5

p.V387M

c.1159G>A

4 papers

NM_001286.5

p.H630Y

c.1888C>T

3 papers

NM_001256959.2

p.E178A

c.533A>C

3 papers

NM_001286.5

p.T520A

c.1558A>G

3 papers

NM_001286.5

p.T628R

c.1883C>G

2 papers

NM_001286.5

p.D40E

c.120T>A

2 papers

NM_001286.5

p.D40E

c.120T>G