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.N89D

c.265A>G

Surrounding Variants

1 paper

NM_004700.4

p.N89H

c.265A>C

1 paper

NM_004700.4

p.N89Y

c.265A>T

1 paper

NM_004700.4

p.N89T

c.266A>C

1 paper

NM_004700.4

p.N89S

c.266A>G

1 paper

NM_004700.4

p.N89I

c.266A>T

1 paper

NM_004700.4

p.Y88S

c.263A>C

1 paper

NM_004700.4

p.Y88C

c.263A>G

1 paper

NM_004700.4

p.Y88F

c.263A>T

1 paper

NM_004700.4

p.N89K

c.267C>A

1 paper

NM_004700.4

p.N89K

c.267C>G

1 paper

NM_004700.4

p.V90M

c.268G>A

1 paper

NM_004700.4

p.V90L

c.268G>C