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.P94S

c.280C>T

Surrounding Variants

1 paper

NM_004700.4

p.P94T

c.280C>A

1 paper

NM_004700.4

p.P94A

c.280C>G

1 paper

NM_004700.4

p.P94H

c.281C>A

1 paper

NM_004700.4

p.P94R

c.281C>G

1 paper

NM_004700.4

p.P94L

c.281C>T

1 paper

NM_004700.4

p.R93R

c.279G>C

1 paper

NM_004700.4

p.R93Q

c.278G>A

2 papers

NM_004700.4

p.R93P

c.278G>C

1 paper

NM_004700.4

p.R93L

c.278G>T

1 paper

NM_004700.4

p.R95S

c.283C>A

2 papers

NM_004700.4

p.R95insFs

c.283_284insGT

1 paper

NM_004700.4

p.R93G

c.277C>G