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.G10S

c.28G>A

Surrounding Variants

7 papers

NM_000085.5

p.R8L

c.23G>T

2 papers

NM_000085.5

p.R8_E9ins5

c.22_26ins15

1 paper

NM_000085.5

p.S12A

c.34T>G

1 paper

NM_000085.5

p.S12_G13insFs

c.36_37insT

1 paper

NM_000085.5

p.L7fs

c.19_20fs

1 paper

NM_000085.5

p.G13G

c.39G>A

1 paper

NM_000085.5

p.G6insFs

c.18dupG

1 paper

NM_000085.5

p.F4L

c.12T>A

1 paper

NM_000085.5

p.F4L

c.12T>G

1 paper

NM_000085.5

p.F4L

c.10T>C

2 papers

NM_000085.5

p.E3insFs

c.8_9ins5

1 paper

NM_000085.5

p.T17S

c.49A>T