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.L58H

c.173T>A

Surrounding Variants

1 paper

NM_004700.4

p.L58P

c.173T>C

1 paper

NM_004700.4

p.L58R

c.173T>G

1 paper

NM_004700.4

p.L58I

c.172C>A

1 paper

NM_004700.4

p.L58V

c.172C>G

1 paper

NM_004700.4

p.L58F

c.172C>T

1 paper

NM_004700.4

p.P59T

c.175C>A

1 paper

NM_004700.4

p.P59A

c.175C>G

1 paper

NM_004700.4

p.P59S

c.175C>T

1 paper

NM_004700.4

p.P57H

c.170C>A

1 paper

NM_004700.4

p.P59H

c.176C>A

1 paper

NM_004700.4

p.P57R

c.170C>G

1 paper

NM_004700.4

p.P59R

c.176C>G