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.D17N

c.49G>A

Surrounding Variants

1 paper

NM_004700.4

p.D17H

c.49G>C

1 paper

NM_004700.4

p.D17Y

c.49G>T

1 paper

NM_004700.4

p.D17A

c.50A>C

1 paper

NM_004700.4

p.D17G

c.50A>G

1 paper

NM_004700.4

p.D17V

c.50A>T

1 paper

NM_004700.4

p.D17E

c.51C>A

1 paper

NM_004700.4

p.D17E

c.51C>G

1 paper

NM_004700.4

p.D17_A21delins

c.51_63delinsA

1 paper

NM_004700.4

p.G16E

c.47G>A

1 paper

NM_004700.4

p.G16A

c.47G>C

1 paper

NM_004700.4

p.G16V

c.47G>T

2 papers

NM_004700.4

p.A18T

c.52G>A