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.A300D

c.899C>A

Surrounding Variants

1 paper

NM_004700.4

p.A300V

c.899C>T

1 paper

NM_004700.4

p.A300P

c.898G>C

1 paper

NM_004700.4

p.A301P

c.901G>C

2 papers

NM_004700.4

p.A301D

c.902C>A

1 paper

NM_004700.4

p.L299Q

c.896T>A

1 paper

NM_004700.4

p.L299P

c.896T>C

1 paper

NM_004700.4

p.L299R

c.896T>G

1 paper

NM_004700.4

p.L299L

c.895C>T

1 paper

NM_004700.4

p.G302R

c.904G>C

1 paper

NM_004700.4

p.G302D

c.905G>A

1 paper

NM_004700.4

p.V298D

c.893T>A

1 paper

NM_004700.4

p.V298G

c.893T>G