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

33 papers

NM_004700.4

p.F182L

c.544T>C

Surrounding Variants

1 paper

NM_004700.4

p.F182I

c.544T>A

1 paper

NM_004700.4

p.F182V

c.544T>G

1 paper

NM_004700.4

p.F182Y

c.545T>A

1 paper

NM_004700.4

p.F182S

c.545T>C

1 paper

NM_004700.4

p.F182C

c.545T>G

33 papers

NM_004700.4

p.F182L

c.546C>A

35 papers

NM_004700.4

p.F182L

c.546C>G

1 paper

NM_004700.4

p.V181E

c.542T>A

1 paper

NM_004700.4

p.V181A

c.542T>C

1 paper

NM_004700.4

p.V181G

c.542T>G

1 paper

NM_004700.4

p.V181M

c.541G>A

1 paper

NM_004700.4

p.V183M

c.547G>A