Varaico: Literature-Extracted Genetic Variants

KCNQ4

417 papers

RefSeq Summary

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current...

Pfam Domains

Ion_transaa 98–330UCSCIon transport protein

KCNQ_channelaa 464–647UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 4

HGNC Previous Symbol

DFNA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004700.4

p.Y286H

c.856T>C

Surrounding Variants

1 paper

NM_004700.4

p.Y286N

c.856T>A

1 paper

NM_004700.4

p.Y286D

c.856T>G

4 papers

NM_004700.4

p.Y286S

c.857A>C

10 papers

NM_004700.4

p.Y286C

c.857A>G

1 paper

NM_004700.4

p.Y286F

c.857A>T

1 paper

NM_004700.4

p.G285D

c.854G>A

1 paper

NM_004700.4

p.G285A

c.854G>C

1 paper

NM_004700.4

p.G285V

c.854G>T

66 papers

NM_004700.4

p.G285S

c.853G>A

3 papers

NM_004700.4

p.G287S

c.859G>A

16 papers

NM_004700.4

p.G287R

c.859G>C

1 paper

NM_004700.4

p.G285R

c.853G>C