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

42 papers

NM_004700.4

p.G321S

c.961G>A

Surrounding Variants

1 paper

NM_004700.4

p.G321R

c.961G>C

1 paper

NM_004700.4

p.G321insFs

c.961_962insC

1 paper

NM_004700.4

p.G321C

c.961G>T

1 paper

NM_004700.4

p.G321D

c.962G>A

1 paper

NM_004700.4

p.G321A

c.962G>C

1 paper

NM_004700.4

p.G321V

c.962G>T

1 paper

NM_004700.4

p.S320Y

c.959C>A

1 paper

NM_004700.4

p.S320C

c.959C>G

1 paper

NM_004700.4

p.S320F

c.959C>T

1 paper

NM_004700.4

p.F322I

c.964T>A

1 paper

NM_004700.4

p.S320P

c.958T>C

1 paper

NM_004700.4

p.S320A

c.958T>G