Varaico: Literature-Extracted Genetic Variants

CLCNKB

453 papers

RefSeq Summary

The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential sta...

Pfam Domains

Voltage_CLCaa 101–513UCSCVoltage gated chloride channel

CBSaa 547–605UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel Kb

HGNC Alias Symbols

hClC-Kb; CLCKB; ClC-K2; ClC-Kb

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_000085.5

p.V170M

c.508G>A

Surrounding Variants

1 paper

NM_000085.5

p.H171N

c.511C>A

1 paper

NM_000085.5

p.P168A

c.502C>G

1 paper

NM_000085.5

p.G167G

c.501C>G

1 paper

NM_000085.5

p.G167D

c.500G>A

1 paper

NM_000085.5

p.G167A

c.500G>C

3 papers

NM_000085.5

p.G167V

c.500G>T

1 paper

NM_000085.5

p.G167S

c.499G>A

1 paper

NM_000085.5

p.G167C

c.499G>T

2 papers

NM_000085.5

p.V174M

c.520G>A

2 papers

NM_000085.5

p.M176I

c.528G>A

2 papers

NM_000085.5

p.M176I

c.528G>C

2 papers

NM_000085.5

p.M176I

c.528G>T