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.D288E

c.864C>G

Surrounding Variants

1 paper

NM_004700.4

p.D288E

c.864C>A

1 paper

NM_004700.4

p.D288A

c.863A>C

1 paper

NM_004700.4

p.K289Q

c.865A>C

1 paper

NM_004700.4

p.D288G

c.863A>G

1 paper

NM_004700.4

p.K289E

c.865A>G

1 paper

NM_004700.4

p.D288V

c.863A>T

1 paper

NM_004700.4

p.K289R

c.866A>G

2 papers

NM_004700.4

p.D288N

c.862G>A

1 paper

NM_004700.4

p.D288H

c.862G>C

1 paper

NM_004700.4

p.D288Y

c.862G>T

1 paper

NM_004700.4

p.K289N

c.867G>C

1 paper

NM_004700.4

p.K289N

c.867G>T