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.F311I

c.931T>A

Surrounding Variants

1 paper

NM_004700.4

p.F311V

c.931T>G

1 paper

NM_004700.4

p.F311S

c.932T>C

1 paper

NM_004700.4

p.F311C

c.932T>G

1 paper

NM_004700.4

p.F310Y

c.929T>A

1 paper

NM_004700.4

p.F310S

c.929T>C

1 paper

NM_004700.4

p.F310C

c.929T>G

1 paper

NM_004700.4

p.A312T

c.934G>A

1 paper

NM_004700.4

p.F310V

c.928T>G

1 paper

NM_004700.4

p.A312D

c.935C>A

1 paper

NM_004700.4

p.A312V

c.935C>T

1 paper

NM_004700.4

p.S309Y

c.926C>A

1 paper

NM_004700.4

p.S309C

c.926C>G