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

1–12 of 2774 variants

66 papers

NM_004700.4

p.G285S

c.853G>A

61 papers

NM_004700.4

p.W276S

c.827G>C

42 papers

NM_004700.4

p.G321S

c.961G>A

35 papers

NM_004700.4

p.F182L

c.546C>G

35 papers

NM_004700.4

p.L281S

c.842T>C

35 papers

NM_004700.4

p.G285C

c.853G>T

34 papers

NM_004700.4

p.L274H

c.821T>A

34 papers

NM_004700.4

p.G296S

c.886G>A

33 papers

NM_004700.4

p.F182L

c.544T>C

33 papers

NM_004700.4

p.F182L

c.546C>A

31 papers

NM_004700.4

p.Q71delFs

c.211delC

19 papers

NM_004700.4

p.L47P

c.140T>C