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.G40C

c.118G>T

Surrounding Variants

1 paper

NM_004700.4

p.G40S

c.118G>A

1 paper

NM_004700.4

p.G40R

c.118G>C

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.G39D

c.116G>A

1 paper

NM_004700.4

p.G39A

c.116G>C

1 paper

NM_004700.4

p.G39V

c.116G>T

1 paper

NM_004700.4

p.G39S

c.115G>A

1 paper

NM_004700.4

p.G39R

c.115G>C

1 paper

NM_004700.4

p.G39C

c.115G>T

1 paper

NM_004700.4

p.S41T

c.121T>A