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.A199S

c.595G>T

Surrounding Variants

1 paper

NM_004700.4

p.A199T

c.595G>A

1 paper

NM_004700.4

p.A199P

c.595G>C

1 paper

NM_004700.4

p.A199D

c.596C>A

1 paper

NM_004700.4

p.A199G

c.596C>G

1 paper

NM_004700.4

p.F198Y

c.593T>A

1 paper

NM_004700.4

p.F198S

c.593T>C

2 papers

NM_004700.4

p.F198C

c.593T>G

1 paper

NM_004700.4

p.T200A

c.598A>G

1 paper

NM_004700.4

p.F198I

c.592T>A

1 paper

NM_004700.4

p.T200K

c.599C>A

1 paper

NM_004700.4

p.T200R

c.599C>G

1 paper

NM_004700.4

p.T200M

c.599C>T