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.A263T

c.787G>A

Surrounding Variants

1 paper

NM_004700.4

p.A263P

c.787G>C

1 paper

NM_004700.4

p.D262A

c.785A>C

18 papers

NM_004700.4

p.D262V

c.785A>T

1 paper

NM_004700.4

p.N264H

c.790A>C

1 paper

NM_004700.4

p.N264D

c.790A>G

1 paper

NM_004700.4

p.N264Y

c.790A>T

1 paper

NM_004700.4

p.D262Y

c.784G>T

1 paper

NM_004700.4

p.N264T

c.791A>C

3 papers

NM_004700.4

p.N264S

c.791A>G

1 paper

NM_004700.4

p.N264I

c.791A>T

1 paper

NM_004700.4

p.K261T

c.782A>C

1 paper

NM_004700.4

p.K261R

c.782A>G