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.H330Q

c.990C>A

Surrounding Variants

1 paper

NM_004700.4

p.H330Q

c.990C>G

1 paper

NM_004700.4

p.H330P

c.989A>C

1 paper

NM_004700.4

p.H330R

c.989A>G

1 paper

NM_004700.4

p.R331G

c.991C>G

3 papers

NM_004700.4

p.R331W

c.991C>T

1 paper

NM_004700.4

p.H330N

c.988C>A

1 paper

NM_004700.4

p.H330Y

c.988C>T

7 papers

NM_004700.4

p.R331Q

c.992G>A

3 papers

NM_004700.4

p.R331P

c.992G>C

2 papers

NM_004700.4

p.R331L

c.992G>T

1 paper

NM_004700.4

p.Q329H

c.987G>C

1 paper

NM_004700.4

p.Q329H

c.987G>T