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.Q327L

c.980A>T

Surrounding Variants

1 paper

NM_004700.4

p.Q327P

c.980A>C

1 paper

NM_004700.4

p.Q327R

c.980A>G

1 paper

NM_004700.4

p.Q327K

c.979C>A

1 paper

NM_004700.4

p.Q327H

c.981G>C

1 paper

NM_004700.4

p.Q327H

c.981G>T

1 paper

NM_004700.4

p.E328A

c.983A>C

1 paper

NM_004700.4

p.E328G

c.983A>G

1 paper

NM_004700.4

p.E328V

c.983A>T

1 paper

NM_004700.4

p.V326A

c.977T>C

1 paper

NM_004700.4

p.V326I

c.976G>A

1 paper

NM_004700.4

p.V326L

c.976G>C

1 paper

NM_004700.4

p.E328D

c.984G>C