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_001256959.2

p.G387S

c.1159G>A

Surrounding Variants

1 paper

NM_001286.5

p.G409D

c.1226G>A

2 papers

NM_001286.5

p.F413C

c.1238T>G

1 paper

NM_001256959.2

p.S382insFs

c.1145_1146insA

1 paper

NM_001286.5

p.S393L

c.1178C>T

1 paper

NM_001286.5

p.S393P

c.1177T>C

4 papers

NM_001286.5

p.V387M

c.1159G>A

1 paper

NM_001286.5

p.S382insFs

c.1145_1146insA

1 paper

NM_001286.5

p.S378R

c.1134C>A

1 paper

NM_001286.5

p.S378R

c.1134C>G

1 paper

NM_001286.5

p.S378R

c.1132A>C

1 paper

NM_001286.5

p.V373I

c.1117G>A

1 paper

NM_001256959.2

p.P346A

c.1036C>G