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.A510D

c.1529C>A

Surrounding Variants

1 paper

NM_000085.5

p.A510T

c.1528G>A

2 papers

NM_000085.5

p.A508T

c.1522G>A

1 paper

NM_000085.5

p.A508_I511del0

c.1522_1533del12

1 paper

NM_000085.5

p.Q513K

c.1537C>A

3 papers

NM_000085.5

p.Q513*

c.1537C>T

1 paper

NM_000085.5

p.S514T

c.1541G>C

1 paper

NM_000085.5

p.V505_L506insFs

c.1515_1516dupGC

2 papers

NM_000085.5

p.C515C

c.1545C>T

1 paper

NM_000085.5

p.Y520C

c.1559A>G

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.A498V

c.1493C>T