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

13 papers

NM_004700.4

p.Y270H

c.808T>C

Surrounding Variants

1 paper

NM_004700.4

p.Y270N

c.808T>A

3 papers

NM_004700.4

p.Y270D

c.808T>G

2 papers

NM_004700.4

p.A271_D272del0

c.811_816del6

1 paper

NM_004700.4

p.Y270S

c.809A>C

1 paper

NM_004700.4

p.Y270C

c.809A>G

2 papers

NM_004700.4

p.Y270*

c.810C>A

1 paper

NM_004700.4

p.S269Y

c.806C>A

1 paper

NM_004700.4

p.S269C

c.806C>G

3 papers

NM_004700.4

p.S269F

c.806C>T

1 paper

NM_004700.4

p.A271T

c.811G>A

1 paper

NM_004700.4

p.A271P

c.811G>C

1 paper

NM_004700.4

p.A271S

c.811G>T