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.G60V

c.179G>T

Surrounding Variants

1 paper

NM_004700.4

p.G60E

c.179G>A

1 paper

NM_004700.4

p.G60A

c.179G>C

1 paper

NM_004700.4

p.G60R

c.178G>A

1 paper

NM_004700.4

p.G60R

c.178G>C

1 paper

NM_004700.4

p.G60W

c.178G>T

1 paper

NM_004700.4

p.P61T

c.181C>A

1 paper

NM_004700.4

p.P61A

c.181C>G

1 paper

NM_004700.4

p.P61S

c.181C>T

1 paper

NM_004700.4

p.P59H

c.176C>A

1 paper

NM_004700.4

p.P61Q

c.182C>A

1 paper

NM_004700.4

p.P59R

c.176C>G

1 paper

NM_004700.4

p.P61R

c.182C>G