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.G34A

c.101G>C

Surrounding Variants

1 paper

NM_004700.4

p.G34D

c.101G>A

1 paper

NM_004700.4

p.G34V

c.101G>T

1 paper

NM_004700.4

p.G34S

c.100G>A

1 paper

NM_004700.4

p.G34R

c.100G>C

1 paper

NM_004700.4

p.G34C

c.100G>T

2 papers

NM_004700.4

p.E35K

c.103G>A

1 paper

NM_004700.4

p.Q33Q

c.99G>A

1 paper

NM_004700.4

p.Q33H

c.99G>C

1 paper

NM_004700.4

p.E35Q

c.103G>C

1 paper

NM_004700.4

p.Q33H

c.99G>T

1 paper

NM_004700.4

p.Q33P

c.98A>C

1 paper

NM_004700.4

p.E35A

c.104A>C