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.V166L

c.496G>T

Surrounding Variants

2 papers

NM_000085.5

p.V166M

c.496G>A

4 papers

NM_000085.5

p.V166L

c.496G>C

5 papers

NM_000085.5

p.V166E

c.497T>A

1 paper

NM_000085.5

p.V166A

c.497T>C

1 paper

NM_000085.5

p.K165R

c.494A>G

1 paper

NM_000085.5

p.V166_G167Splc

c.498+1G>C

5 papers

NM_000085.5

p.G164G

c.492G>C

1 paper

NM_000085.5

p.G164R

c.490G>A

1 paper

NM_000085.5

p.G164R

c.490G>C

3 papers

NM_000085.5

p.G164W

c.490G>T

1 paper

NM_000085.5

p.L161I

c.481C>A

1 paper

NM_000085.5

p.G158D

c.473G>A