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.P53A

c.157C>G

Surrounding Variants

2 papers

NM_004700.4

p.P53T

c.157C>A

1 paper

NM_004700.4

p.P53S

c.157C>T

2 papers

NM_004700.4

p.P53Q

c.158C>A

1 paper

NM_004700.4

p.P53R

c.158C>G

1 paper

NM_004700.4

p.P53L

c.158C>T

1 paper

NM_004700.4

p.L52Q

c.155T>A

1 paper

NM_004700.4

p.L52P

c.155T>C

1 paper

NM_004700.4

p.L52R

c.155T>G

1 paper

NM_004700.4

p.L52M

c.154C>A

1 paper

NM_004700.4

p.P54T

c.160C>A

1 paper

NM_004700.4

p.L52V

c.154C>G

1 paper

NM_004700.4

p.P54A

c.160C>G