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

10 papers

NM_000085.5

p.R538P

c.1613G>C

Surrounding Variants

1 paper

NM_000085.5

p.R538R

c.1614C>A

1 paper

NM_000085.5

p.G541Splc

c.1622+2T>G

1 paper

NM_000085.5

p.Y531*

c.1593C>A

1 paper

NM_000085.5

p.Y531*

c.1593C>G

3 papers

NM_000085.5

p.P530L

c.1589C>T

1 paper

NM_000085.5

p.I525T

c.1574T>C

5 papers

NM_000085.5

p.V524I

c.1570G>A

1 paper

NM_000085.5

p.T523_L529del0

c.1569_1586del18

1 paper

NM_000085.5

p.Y520*

c.1560T>A

2 papers

NM_000085.5

p.Y520*

c.1560T>G

1 paper

NM_000085.5

p.Y520C

c.1559A>G

2 papers

NM_000085.5

p.C515C

c.1545C>T