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.F179S

c.536T>C

Surrounding Variants

1 paper

NM_004700.4

p.F179Y

c.536T>A

1 paper

NM_004700.4

p.F179C

c.536T>G

1 paper

NM_004700.4

p.F179L

c.537C>A

1 paper

NM_004700.4

p.F179L

c.537C>G

1 paper

NM_004700.4

p.F179I

c.535T>A

1 paper

NM_004700.4

p.F179L

c.535T>C

1 paper

NM_004700.4

p.F179V

c.535T>G

1 paper

NM_004700.4

p.I180L

c.538A>C

1 paper

NM_004700.4

p.I180V

c.538A>G

1 paper

NM_004700.4

p.I180F

c.538A>T

1 paper

NM_004700.4

p.I180N

c.539T>A

1 paper

NM_004700.4

p.I180T

c.539T>C