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.N193Y

c.577A>T

Surrounding Variants

1 paper

NM_000085.5

p.E192_N193Splc

c.577-1G>A

4 papers

NM_000085.5

p.E192_N193Splc

c.577-5C>T

1 paper

NM_000085.5

p.E192_N193Splc

c.577-8T>G

1 paper

NM_000085.5

p.Q197K

c.589C>A

5 papers

NM_000085.5

p.E199*

c.595G>T

1 paper

NM_000085.5

p.M200R

c.599T>G

1 paper

NM_000085.5

p.L201insFs

c.601_602insA

26 papers

NM_000085.5

p.A204T

c.610G>A

1 paper

NM_000085.5

p.G208S

c.622G>A

1 paper

NM_000085.5

p.V209A

c.626T>C

9 papers

NM_000085.5

p.A210V

c.629C>T

1 paper

NM_000085.5

p.T211A

c.631A>G