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.A21T

c.61G>A

Surrounding Variants

1 paper

NM_004700.4

p.A21P

c.61G>C

1 paper

NM_004700.4

p.A21fs

c.61_62fs

1 paper

NM_004700.4

p.A21S

c.61G>T

1 paper

NM_004700.4

p.A21E

c.62C>A

1 paper

NM_004700.4

p.A21G

c.62C>G

1 paper

NM_004700.4

p.A21V

c.62C>T

1 paper

NM_004700.4

p.R20H

c.59G>A

1 paper

NM_004700.4

p.R20P

c.59G>C

1 paper

NM_004700.4

p.R20L

c.59G>T

1 paper

NM_004700.4

p.R20S

c.58C>A

1 paper

NM_004700.4

p.R20G

c.58C>G

1 paper

NM_004700.4

p.R20C

c.58C>T