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

5 papers

NM_000085.5

p.L139P

c.416T>C

Surrounding Variants

1 paper

NM_000085.5

p.E136G

c.407A>G

1 paper

NM_000085.5

p.A146T

c.436G>A

1 paper

NM_000085.5

p.A146G

c.437C>G

1 paper

NM_000085.5

p.A146V

c.437C>T

1 paper

NM_000085.5

p.G132S

c.394G>A

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.V148L

c.442G>C

1 paper

NM_000085.5

p.V148L

c.442G>T

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.G150A

c.449G>C