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.I197L

c.589A>C

Surrounding Variants

1 paper

NM_004700.4

p.I197F

c.589A>T

1 paper

NM_004700.4

p.I197N

c.590T>A

1 paper

NM_004700.4

p.N196T

c.587A>C

1 paper

NM_004700.4

p.N196S

c.587A>G

1 paper

NM_004700.4

p.N196I

c.587A>T

1 paper

NM_004700.4

p.N196D

c.586A>G

1 paper

NM_004700.4

p.N196Y

c.586A>T

1 paper

NM_004700.4

p.F198I

c.592T>A

1 paper

NM_004700.4

p.F198Y

c.593T>A

1 paper

NM_004700.4

p.F198S

c.593T>C

2 papers

NM_004700.4

p.F198C

c.593T>G

1 paper

NM_004700.4

p.G195D

c.584G>A