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.E22A

c.65A>C

Surrounding Variants

1 paper

NM_004700.4

p.E22G

c.65A>G

1 paper

NM_004700.4

p.E22V

c.65A>T

1 paper

NM_004700.4

p.E22K

c.64G>A

1 paper

NM_004700.4

p.E22Q

c.64G>C

1 paper

NM_004700.4

p.E22D

c.66G>C

1 paper

NM_004700.4

p.E22D

c.66G>T

1 paper

NM_004700.4

p.L23I

c.67C>A

1 paper

NM_004700.4

p.L23V

c.67C>G

1 paper

NM_004700.4

p.A21E

c.62C>A

1 paper

NM_004700.4

p.A21G

c.62C>G

1 paper

NM_004700.4

p.A21V

c.62C>T

1 paper

NM_004700.4

p.L23Q

c.68T>A