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.M214K

c.641T>A

Surrounding Variants

1 paper

NM_004700.4

p.M214T

c.641T>C

1 paper

NM_004700.4

p.M214R

c.641T>G

1 paper

NM_004700.4

p.M214V

c.640A>G

1 paper

NM_004700.4

p.M214I

c.642G>A

1 paper

NM_004700.4

p.M214I

c.642G>C

1 paper

NM_004700.4

p.M214I

c.642G>T

1 paper

NM_004700.4

p.R213R

c.639C>T

1 paper

NM_004700.4

p.R213H

c.638G>A

2 papers

NM_004700.4

p.R213P

c.638G>C

1 paper

NM_004700.4

p.R213L

c.638G>T

1 paper

NM_004700.4

p.V215E

c.644T>A

1 paper

NM_004700.4

p.V215G

c.644T>G