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.G132S

c.394G>A

Surrounding Variants

1 paper

NM_000085.5

p.G132C

c.394G>T

2 papers

NM_000085.5

p.A131V

c.392C>T

1 paper

NM_000085.5

p.E136G

c.407A>G

1 paper

NM_000085.5

p.K127N

c.381G>C

1 paper

NM_000085.5

p.K127N

c.381G>T

1 paper

NM_000085.5

p.E125K

c.373G>A

1 paper

NM_000085.5

p.E125Q

c.373G>C

1 paper

NM_000085.5

p.P124P

c.372G>A

5 papers

NM_000085.5

p.L139P

c.416T>C

23 papers

NM_000085.5

p.P124L

c.371C>T

1 paper

NM_000085.5

p.P124A

c.370C>G

1 paper

NM_000085.5

p.I123F

c.367A>T