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.W22*

c.65G>A

Surrounding Variants

1 paper

NM_000085.5

p.W22*

c.66G>A

2 papers

NM_000085.5

p.C25*

c.75T>A

15 papers

NM_000085.5

p.R27L

c.80G>T

1 paper

NM_000085.5

p.T17S

c.49A>T

9 papers

NM_000085.5

p.R30*

c.88C>T

1 paper

NM_000085.5

p.G13G

c.39G>A

1 paper

NM_000085.5

p.G31R

c.91G>C

1 paper

NM_000085.5

p.S12_G13insFs

c.36_37insT

1 paper

NM_000085.5

p.S12A

c.34T>G

2 papers

NM_000085.5

p.R33*

c.97C>T

1 paper

NM_000085.5

p.R33Q

c.98G>A

3 papers

NM_000085.5

p.G10S

c.28G>A