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

2 papers

NM_004700.4

p.L48Q

c.143T>A

Surrounding Variants

1 paper

NM_004700.4

p.L48P

c.143T>C

1 paper

NM_004700.4

p.L48R

c.143T>G

1 paper

NM_004700.4

p.L48M

c.142C>A

1 paper

NM_004700.4

p.L48V

c.142C>G

1 paper

NM_004700.4

p.G49S

c.145G>A

1 paper

NM_004700.4

p.G49R

c.145G>C

1 paper

NM_004700.4

p.G49C

c.145G>T

1 paper

NM_004700.4

p.G49D

c.146G>A

1 paper

NM_004700.4

p.G49A

c.146G>C

1 paper

NM_004700.4

p.G49V

c.146G>T

1 paper

NM_004700.4

p.L47H

c.140T>A

19 papers

NM_004700.4

p.L47P

c.140T>C