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.H497N

c.1489C>A

Surrounding Variants

1 paper

NM_000085.5

p.H497L

c.1490A>T

1 paper

NM_000085.5

p.V496V

c.1488G>T

1 paper

NM_000085.5

p.A498V

c.1493C>T

1 paper

NM_000085.5

p.I495R

c.1484T>G

1 paper

NM_000085.5

p.G493insFs

c.1479dupC

1 paper

NM_000085.5

p.G493fs

c.1477_1478fs

1 paper

NM_000085.5

p.G493delFs

c.1478delG

1 paper

NM_000085.5

p.E490G

c.1469A>G

4 papers

NM_000085.5

p.E490K

c.1468G>A

1 paper

NM_000085.5

p.V505_L506insFs

c.1515_1516dupGC

1 paper

NM_000085.5

p.A488T

c.1462G>A

1 paper

NM_000085.5

p.A488_T492del0

c.1464_1475del12