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.W242C

c.726G>T

Surrounding Variants

10 papers

NM_004700.4

p.W242*

c.726G>A

1 paper

NM_004700.4

p.W242C

c.726G>C

17 papers

NM_004700.4

p.W242*

c.725G>A

6 papers

NM_004700.4

p.W242L

c.725G>T

1 paper

NM_004700.4

p.Y243N

c.727T>A

1 paper

NM_004700.4

p.Y243H

c.727T>C

1 paper

NM_004700.4

p.Y243D

c.727T>G

1 paper

NM_004700.4

p.Y243S

c.728A>C

1 paper

NM_004700.4

p.Y243C

c.728A>G

1 paper

NM_004700.4

p.Y243F

c.728A>T

1 paper

NM_004700.4

p.W242R

c.724T>A

1 paper

NM_004700.4

p.W242R

c.724T>C