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

38 papers

NM_000085.5

p.W610*

c.1830G>A

Surrounding Variants

34 papers

NM_000085.5

p.W610*

c.1829G>A

1 paper

NM_000085.5

p.G613R

c.1837G>A

1 paper

NM_000085.5

p.G613R

c.1837G>C

1 paper

NM_000085.5

p.E606*

c.1816G>T

4 papers

NM_000085.5

p.Q615_Q616Splc

c.1845+1G>A

1 paper

NM_000085.5

p.A605T

c.1813G>A

1 paper

NM_000085.5

p.Q598K

c.1792C>A

2 papers

NM_000085.5

p.Q598*

c.1792C>T

1 paper

NM_000085.5

p.R595Q

c.1784G>A

12 papers

NM_000085.5

p.R595*

c.1783C>T

1 paper

NM_000085.5

p.I593R

c.1778T>G

1 paper

NM_000085.5

p.E586Splc

c.1757-2A>G