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

4 papers

NM_000085.5

p.A214delins

c.641_642delinsGC

Surrounding Variants

9 papers

NM_000085.5

p.A214G

c.641C>G

2 papers

NM_000085.5

p.A214V

c.641C>T

1 paper

NM_000085.5

p.A214delFs

c.642delA

3 papers

NM_000085.5

p.A214A

c.642A>C

1 paper

NM_000085.5

p.A215fs

c.643_644fs

7 papers

NM_000085.5

p.P216L

c.647C>T

1 paper

NM_000085.5

p.T211A

c.631A>G

9 papers

NM_000085.5

p.A210V

c.629C>T

5 papers

NM_000085.5

p.S218N

c.653G>A

4 papers

NM_000085.5

p.G219C

c.655G>T

1 paper

NM_000085.5

p.V209A

c.626T>C

1 paper

NM_000085.5

p.G208S

c.622G>A