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.D54A

c.161A>C

Surrounding Variants

1 paper

NM_001286.5

p.D52A

c.155A>C

1 paper

NM_001286.5

p.C56Y

c.167G>A

1 paper

NM_001286.5

p.N58S

c.173A>G

1 paper

NM_001286.5

p.Y61F

c.182A>T

1 paper

NM_001286.5

p.E66A

c.197A>C

1 paper

NM_001286.5

p.D69Y

c.205G>T

1 paper

NM_001286.5

p.K71_K72Splc

c.213+11C>A

1 paper

NM_001286.5

p.G73S

c.217G>A

1 paper

NM_001286.5

p.A78V

c.233C>T

1 paper

NM_001286.5

p.A78A

c.234G>A

1 paper

NM_001286.5

p.K80E

c.238A>G

1 paper

NM_001256959.2

p.W59*

c.176G>A