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.R672H

c.2015G>A

Surrounding Variants

2 papers

NM_001286.5

p.G669G

c.2007C>T

1 paper

NM_001286.5

p.S684_E685del1

c.2052_2054delCGA

1 paper

NM_001286.5

p.N688D

c.2062A>G

1 paper

NM_001286.5

p.A695A

c.2085C>A

1 paper

NM_001286.5

p.D704N

c.2110G>A

1 paper

NM_001286.5

p.Q708del1

c.2122_2123delCAG

1 paper

NM_001286.5

p.P716P

c.2148C>A

1 paper

NM_001286.5

p.N719T

c.2156A>C

1 paper

NM_001286.5

p.L744L

c.2230C>T

1 paper

NM_001286.5

p.L754R

c.2261T>G

1 paper

NM_001286.5

p.R756*

c.2266C>T

1 paper

NM_001286.5

p.G641S

c.1921G>A