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.R8L

c.23G>T

Surrounding Variants

2 papers

NM_004700.4

p.R8H

c.23G>A

1 paper

NM_004700.4

p.R8P

c.23G>C

1 paper

NM_004700.4

p.R8S

c.22C>A

1 paper

NM_004700.4

p.R8G

c.22C>G

1 paper

NM_004700.4

p.R8C

c.22C>T

1 paper

NM_004700.4

p.L9I

c.25C>A

1 paper

NM_004700.4

p.L9V

c.25C>G

1 paper

NM_004700.4

p.L9F

c.25C>T

1 paper

NM_004700.4

p.R7H

c.20G>A

1 paper

NM_004700.4

p.R7P

c.20G>C

1 paper

NM_004700.4

p.R7L

c.20G>T

1 paper

NM_004700.4

p.L9H

c.26T>A