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

3 papers

NM_000085.5

p.G433E

c.1298G>A

Surrounding Variants

1 paper

NM_000085.5

p.G433V

c.1298G>T

1 paper

NM_000085.5

p.G433Splc

c.1298-1G>A

1 paper

NM_000085.5

p.A435V

c.1304C>T

1 paper

NM_000085.5

p.G433Splc

c.1298-6G>A

11 papers

NM_000085.5

p.G437R

c.1309G>A

9 papers

NM_000085.5

p.G437R

c.1309G>C

1 paper

NM_000085.5

p.R438S

c.1312C>A

14 papers

NM_000085.5

p.R438C

c.1312C>T

17 papers

NM_000085.5

p.R438H

c.1313G>A

5 papers

NM_000085.5

p.L439P

c.1316T>C

1 paper

NM_000085.5

p.G441V

c.1322G>T

3 papers

NM_000085.5

p.G441G

c.1323G>A