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.V585_L588del4

c.1753_1763del12

Surrounding Variants

1 paper

NM_001286.5

p.V585M

c.1753G>A

6 papers

NM_001286.5

p.V580M

c.1738G>A

1 paper

NM_001286.5

p.Y576S

c.1727A>C

1 paper

NM_001286.5

p.K598R

c.1793A>G

1 paper

NM_001286.5

p.D569N

c.1705G>A

1 paper

NM_001286.5

p.V563M

c.1687G>A

1 paper

NM_001286.5

p.M562_V563Splc

c.1686+34C>G

12 papers

NM_001286.5

p.Y553C

c.1658A>G

1 paper

NM_001286.5

p.Y553F

c.1658A>T

1 paper

NM_001286.5

p.T552N

c.1655C>A

1 paper

NM_001286.5

p.E550A

c.1649A>C

1 paper

NM_001286.5

p.I524S

c.1571T>G