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.R43C

c.127C>T

Surrounding Variants

1 paper

NM_004700.4

p.R43S

c.127C>A

1 paper

NM_004700.4

p.R43G

c.127C>G

1 paper

NM_004700.4

p.R43H

c.128G>A

1 paper

NM_004700.4

p.R43P

c.128G>C

1 paper

NM_004700.4

p.R43L

c.128G>T

1 paper

NM_004700.4

p.P42Q

c.125C>A

1 paper

NM_004700.4

p.P42R

c.125C>G

1 paper

NM_004700.4

p.P42L

c.125C>T

1 paper

NM_004700.4

p.P42T

c.124C>A

1 paper

NM_004700.4

p.R44S

c.130C>A

1 paper

NM_004700.4

p.P42A

c.124C>G

1 paper

NM_004700.4

p.R44G

c.130C>G