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

5 papers

NM_000085.5

p.L581L

c.1741C>T

NM_001165945.2

p.L412L

c.1234C>T

Surrounding Variants

1 paper

NM_000085.5

p.K578insFs

c.1733_1734insC

10 papers

NM_001165945.2

p.K409E

c.1225A>G

NM_000085.5

p.K578E

c.1732A>G

1 paper

NM_000085.5

p.A577T

c.1729G>A

2 papers

NM_000085.5

p.T585T

c.1755A>G

1 paper

NM_000085.5

p.E586K

c.1756G>A

4 papers

NM_000085.5

p.E586Splc

c.1756+1G>A

4 papers

NM_000085.5

p.S573Y

c.1718C>A

2 papers

NM_000085.5

p.E566fs

c.1696_1697fs

2 papers

NM_000085.5

p.E566fs

c.1696_1697fs

2 papers

NM_000085.5

p.E566delFs

c.1696delG

1 paper

NM_000085.5

p.E565fs

c.1693_1694fs

1 paper

NM_000085.5

p.E565fs

c.1693_1694fs