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

3 papers

NM_004700.4

p.Y257C

c.770A>G

Surrounding Variants

1 paper

NM_004700.4

p.Y257S

c.770A>C

1 paper

NM_004700.4

p.Y257F

c.770A>T

1 paper

NM_004700.4

p.Y257N

c.769T>A

1 paper

NM_004700.4

p.Y257D

c.769T>G

1 paper

NM_004700.4

p.V256D

c.767T>A

3 papers

NM_004700.4

p.L258P

c.773T>C

1 paper

NM_004700.4

p.V256A

c.767T>C

3 papers

NM_004700.4

p.V256G

c.767T>G

1 paper

NM_004700.4

p.L258R

c.773T>G

1 paper

NM_004700.4

p.V256I

c.766G>A

1 paper

NM_004700.4

p.V256F

c.766G>T

1 paper

NM_004700.4

p.A259_F267del9

c.775_800del27