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.A304T

c.910G>A

Surrounding Variants

1 paper

NM_004700.4

p.A304P

c.910G>C

3 papers

NM_004700.4

p.F303L

c.909C>A

1 paper

NM_004700.4

p.A304D

c.911C>A

3 papers

NM_004700.4

p.F303L

c.909C>G

1 paper

NM_004700.4

p.A304V

c.911C>T

1 paper

NM_004700.4

p.F303Y

c.908T>A

1 paper

NM_004700.4

p.F303S

c.908T>C

1 paper

NM_004700.4

p.F303I

c.907T>A

3 papers

NM_004700.4

p.F303L

c.907T>C

1 paper

NM_004700.4

p.F303V

c.907T>G

1 paper

NM_004700.4

p.L305S

c.914T>C

1 paper

NM_004700.4

p.L305F

c.915A>C