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.P15R

c.44C>G

Surrounding Variants

1 paper

NM_004700.4

p.P15H

c.44C>A

1 paper

NM_004700.4

p.P15L

c.44C>T

1 paper

NM_004700.4

p.P15T

c.43C>A

1 paper

NM_004700.4

p.P15A

c.43C>G

1 paper

NM_004700.4

p.P15S

c.43C>T

1 paper

NM_004700.4

p.G16R

c.46G>A

1 paper

NM_004700.4

p.G16R

c.46G>C

1 paper

NM_004700.4

p.G16W

c.46G>T

1 paper

NM_004700.4

p.P14Q

c.41C>A

1 paper

NM_004700.4

p.P14R

c.41C>G

1 paper

NM_004700.4

p.P14L

c.41C>T

1 paper

NM_004700.4

p.G16E

c.47G>A