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.Q30L

c.89A>T

Surrounding Variants

1 paper

NM_004700.4

p.Q30P

c.89A>C

1 paper

NM_004700.4

p.Q30R

c.89A>G

1 paper

NM_004700.4

p.Q30K

c.88C>A

1 paper

NM_004700.4

p.Q30E

c.88C>G

1 paper

NM_004700.4

p.Q30H

c.90G>C

1 paper

NM_004700.4

p.Q30H

c.90G>T

1 paper

NM_004700.4

p.S31R

c.91A>C

1 paper

NM_004700.4

p.S31G

c.91A>G

1 paper

NM_004700.4

p.S31C

c.91A>T

1 paper

NM_004700.4

p.S31N

c.92G>A

1 paper

NM_004700.4

p.S31T

c.92G>C

1 paper

NM_004700.4

p.S31I

c.92G>T