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.I105Splc

c.314+1G>A

Surrounding Variants

1 paper

NM_004700.4

p.I105M

c.315A>G

1 paper

NM_004700.4

p.I105K

c.314T>A

1 paper

NM_004700.4

p.I105T

c.314T>C

1 paper

NM_004700.4

p.I105R

c.314T>G

1 paper

NM_004700.4

p.I105L

c.313A>C

1 paper

NM_004700.4

p.I105V

c.313A>G

1 paper

NM_004700.4

p.I105L

c.313A>T

1 paper

NM_004700.4

p.F104L

c.312C>A

1 paper

NM_004700.4

p.F104L

c.312C>G

1 paper

NM_004700.4

p.F104Y

c.311T>A

1 paper

NM_004700.4

p.F104S

c.311T>C

1 paper

NM_004700.4

p.F104C

c.311T>G