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.F208C

c.623T>G

Surrounding Variants

1 paper

NM_004700.4

p.F208Y

c.623T>A

1 paper

NM_004700.4

p.F208S

c.623T>C

1 paper

NM_004700.4

p.F208V

c.622T>G

1 paper

NM_004700.4

p.R207H

c.620G>A

1 paper

NM_004700.4

p.R207P

c.620G>C

1 paper

NM_004700.4

p.R207L

c.620G>T

1 paper

NM_004700.4

p.L209Q

c.626T>A

1 paper

NM_004700.4

p.L209P

c.626T>C

3 papers

NM_004700.4

p.L209R

c.626T>G

1 paper

NM_004700.4

p.R207S

c.619C>A

1 paper

NM_004700.4

p.R207G

c.619C>G

1 paper

NM_004700.4

p.R207C

c.619C>T