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.R204L

c.611G>T

Surrounding Variants

1 paper

NM_004700.4

p.R204H

c.611G>A

1 paper

NM_004700.4

p.R204C

c.610C>T

1 paper

NM_004700.4

p.S205R

c.613A>C

1 paper

NM_004700.4

p.S205N

c.614G>A

1 paper

NM_004700.4

p.L203P

c.608T>C

1 paper

NM_004700.4

p.L203R

c.608T>G

1 paper

NM_004700.4

p.S205R

c.615C>A

1 paper

NM_004700.4

p.S205R

c.615C>G

1 paper

NM_004700.4

p.M206V

c.616A>G

1 paper

NM_004700.4

p.A202E

c.605C>A

1 paper

NM_004700.4

p.A202G

c.605C>G

1 paper

NM_004700.4

p.A202V

c.605C>T