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.S41P

c.121T>C

Surrounding Variants

1 paper

NM_004700.4

p.S41T

c.121T>A

1 paper

NM_004700.4

p.S41A

c.121T>G

1 paper

NM_004700.4

p.S41Y

c.122C>A

1 paper

NM_004700.4

p.S41C

c.122C>G

1 paper

NM_004700.4

p.S41F

c.122C>T

1 paper

NM_004700.4

p.G40D

c.119G>A

1 paper

NM_004700.4

p.G40A

c.119G>C

1 paper

NM_004700.4

p.G40V

c.119G>T

1 paper

NM_004700.4

p.P42T

c.124C>A

1 paper

NM_004700.4

p.P42A

c.124C>G

2 papers

NM_004700.4

p.P42S

c.124C>T

1 paper

NM_004700.4

p.G40S

c.118G>A