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

1 paper

NM_000085.5

p.A156V

c.467C>T

Surrounding Variants

1 paper

NM_000085.5

p.L155V

c.463C>G

1 paper

NM_000085.5

p.G158D

c.473G>A

1 paper

NM_000085.5

p.T154A

c.460A>G

1 paper

NM_000085.5

p.L161I

c.481C>A

1 paper

NM_000085.5

p.L151F

c.451C>T

1 paper

NM_000085.5

p.G150A

c.449G>C

8 papers

NM_000085.5

p.V149E

c.446T>A

1 paper

NM_000085.5

p.V149A

c.446T>C

1 paper

NM_000085.5

p.G164R

c.490G>A

1 paper

NM_000085.5

p.G164R

c.490G>C

3 papers

NM_000085.5

p.G164W

c.490G>T

5 papers

NM_000085.5

p.G164G

c.492G>C