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.G221V

c.662G>T

Surrounding Variants

1 paper

NM_004700.4

p.G221D

c.662G>A

16 papers

NM_004700.4

p.G222_L227del0

c.664_681del18

1 paper

NM_004700.4

p.G221S

c.661G>A

1 paper

NM_004700.4

p.G221R

c.661G>C

1 paper

NM_004700.4

p.G221C

c.661G>T

1 paper

NM_004700.4

p.G222S

c.664G>A

1 paper

NM_004700.4

p.G222C

c.664G>T

2 papers

NM_004700.4

p.G222D

c.665G>A

1 paper

NM_004700.4

p.R220P

c.659G>C

1 paper

NM_004700.4

p.G222A

c.665G>C

1 paper

NM_004700.4

p.R220L

c.659G>T

1 paper

NM_004700.4

p.G222V

c.665G>T