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.A25V

c.74C>T

Surrounding Variants

1 paper

NM_004700.4

p.A25E

c.74C>A

1 paper

NM_004700.4

p.A25G

c.74C>G

1 paper

NM_004700.4

p.A25T

c.73G>A

1 paper

NM_004700.4

p.A25P

c.73G>C

1 paper

NM_004700.4

p.A25S

c.73G>T

1 paper

NM_004700.4

p.L26I

c.76C>A

1 paper

NM_004700.4

p.L26V

c.76C>G

1 paper

NM_004700.4

p.L26F

c.76C>T

1 paper

NM_004700.4

p.V24E

c.71T>A

1 paper

NM_004700.4

p.L26H

c.77T>A

1 paper

NM_004700.4

p.V24A

c.71T>C

1 paper

NM_004700.4

p.L26P

c.77T>C