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.L281L

c.841T>C

Surrounding Variants

4 papers

NM_004700.4

p.L281M

c.841T>A

1 paper

NM_004700.4

p.L281V

c.841T>G

35 papers

NM_004700.4

p.L281S

c.842T>C

3 papers

NM_004700.4

p.L281W

c.842T>G

1 paper

NM_004700.4

p.T280K

c.839C>A

1 paper

NM_004700.4

p.T280R

c.839C>G

1 paper

NM_004700.4

p.T280I

c.839C>T

1 paper

NM_004700.4

p.T280P

c.838A>C

1 paper

NM_004700.4

p.T282P

c.844A>C

1 paper

NM_004700.4

p.T280A

c.838A>G

1 paper

NM_004700.4

p.T282A

c.844A>G

1 paper

NM_004700.4

p.T282S

c.844A>T