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.P291A

c.871C>G

Surrounding Variants

1 paper

NM_004700.4

p.P291T

c.871C>A

17 papers

NM_004700.4

p.P291S

c.871C>T

1 paper

NM_004700.4

p.P291Q

c.872C>A

1 paper

NM_004700.4

p.P291R

c.872C>G

19 papers

NM_004700.4

p.P291L

c.872C>T

1 paper

NM_004700.4

p.T290K

c.869C>A

1 paper

NM_004700.4

p.T290R

c.869C>G

5 papers

NM_004700.4

p.P291P

c.873G>A

1 paper

NM_004700.4

p.T290P

c.868A>C

1 paper

NM_004700.4

p.T290A

c.868A>G

1 paper

NM_004700.4

p.T290S

c.868A>T

1 paper

NM_004700.4

p.H292P

c.875A>C