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

2 papers

NM_004700.4

p.F254L

c.762C>G

Surrounding Variants

2 papers

NM_004700.4

p.F254L

c.762C>A

1 paper

NM_004700.4

p.F254S

c.761T>C

1 paper

NM_004700.4

p.F254C

c.761T>G

1 paper

NM_004700.4

p.F254I

c.760T>A

1 paper

NM_004700.4

p.L255Q

c.764T>A

2 papers

NM_004700.4

p.F254L

c.760T>C

1 paper

NM_004700.4

p.L255P

c.764T>C

1 paper

NM_004700.4

p.F254V

c.760T>G

1 paper

NM_004700.4

p.L255R

c.764T>G

1 paper

NM_004700.4

p.L255L

c.765G>A

1 paper

NM_004700.4

p.S253Y

c.758C>A

1 paper

NM_004700.4

p.S253C

c.758C>G