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.I452I

c.1356C>T

Surrounding Variants

1 paper

NM_000085.5

p.A454T

c.1360G>A

1 paper

NM_000085.5

p.E450Q

c.1348G>C

2 papers

NM_000085.5

p.G456E

c.1367G>A

1 paper

NM_000085.5

p.I457V

c.1369A>G

5 papers

NM_000085.5

p.I447T

c.1340T>C

1 paper

NM_000085.5

p.F446V

c.1336T>G

2 papers

NM_000085.5

p.S445A

c.1333T>G

1 paper

NM_000085.5

p.S445fs

c.1333_1334fs

3 papers

NM_000085.5

p.S445fs

c.1333_1334fs

1 paper

NM_000085.5

p.S445_F446delFs

c.1334_1338del5

1 paper

NM_000085.5

p.T443A

c.1327A>G

3 papers

NM_000085.5

p.S445delFs

c.1334_1335delCT