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.I457V

c.1369A>G

Surrounding Variants

2 papers

NM_000085.5

p.G456E

c.1367G>A

1 paper

NM_000085.5

p.A454T

c.1360G>A

1 paper

NM_000085.5

p.I452I

c.1356C>T

1 paper

NM_000085.5

p.P463S

c.1387C>T

2 papers

NM_000085.5

p.P463delFs

c.1389delA

1 paper

NM_000085.5

p.G465insFs

c.1395dupG

2 papers

NM_000085.5

p.P463P

c.1389A>C

1 paper

NM_000085.5

p.G465delFs

c.1395delG

1 paper

NM_000085.5

p.E450Q

c.1348G>C

6 papers

NM_000085.5

p.G465R

c.1393G>A

6 papers

NM_000085.5

p.G465R

c.1393G>C

1 paper

NM_000085.5

p.G465E

c.1394G>A