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

13 papers

NM_001165945.2

p.M393T

c.1178T>C

NM_000085.5

p.M562T

c.1685T>C

Surrounding Variants

1 paper

NM_000085.5

p.M562R

c.1685T>G

2 papers

NM_000085.5

p.K560M

c.1679A>T

2 papers

NM_000085.5

p.E565delFs

c.1693delG

1 paper

NM_000085.5

p.E565fs

c.1693_1694fs

1 paper

NM_000085.5

p.E565fs

c.1693_1694fs

2 papers

NM_000085.5

p.E566delFs

c.1696delG

2 papers

NM_000085.5

p.E566fs

c.1696_1697fs

2 papers

NM_000085.5

p.E566fs

c.1696_1697fs

1 paper

NM_000085.5

p.T557R

c.1670C>G

1 paper

NM_000085.5

p.T556I

c.1667C>T

2 papers

NM_000085.5

p.S554fs

c.1660_1661fs

1 paper

NM_000085.5

p.H553_I555delFs

c.1657_1664del8