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.H234P

c.701A>C

Surrounding Variants

10 papers

NM_004700.4

p.H234R

c.701A>G

11 papers

NM_004700.4

p.H234L

c.701A>T

1 paper

NM_004700.4

p.H234D

c.700C>G

1 paper

NM_004700.4

p.H234Y

c.700C>T

2 papers

NM_004700.4

p.H234Q

c.702T>A

2 papers

NM_004700.4

p.H234Q

c.702T>G

1 paper

NM_004700.4

p.S235R

c.703A>C

1 paper

NM_004700.4

p.S235G

c.703A>G

1 paper

NM_004700.4

p.A233E

c.698C>A

1 paper

NM_004700.4

p.A233V

c.698C>T

1 paper

NM_004700.4

p.S235T

c.704G>C

1 paper

NM_004700.4

p.S235I

c.704G>T