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.S73A

c.217T>G

Surrounding Variants

1 paper

NM_004700.4

p.S73T

c.217T>A

1 paper

NM_004700.4

p.S73P

c.217T>C

1 paper

NM_004700.4

p.S73Y

c.218C>A

1 paper

NM_004700.4

p.S73C

c.218C>G

1 paper

NM_004700.4

p.S73F

c.218C>T

1 paper

NM_004700.4

p.R72H

c.215G>A

1 paper

NM_004700.4

p.R72P

c.215G>C

1 paper

NM_004700.4

p.R72L

c.215G>T

1 paper

NM_004700.4

p.R72S

c.214C>A

1 paper

NM_004700.4

p.R72G

c.214C>G

1 paper

NM_004700.4

p.R72C

c.214C>T

1 paper

NM_004700.4

p.S74T

c.220T>A