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.R184H

c.551G>A

Surrounding Variants

1 paper

NM_000085.5

p.R184fs

c.550_551fs

1 paper

NM_000085.5

p.T186M

c.557C>T

1 paper

NM_000085.5

p.G189V

c.566G>T

1 paper

NM_000085.5

p.A178P

c.532G>C

1 paper

NM_000085.5

p.P191T

c.571C>A

1 paper

NM_000085.5

p.A177T

c.529G>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

1 paper

NM_000085.5

p.E192*

c.574G>T

2 papers

NM_000085.5

p.V174M

c.520G>A

1 paper

NM_000085.5

p.H171N

c.511C>A