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

4 papers

NM_004700.4

p.G245R

c.733G>A

Surrounding Variants

4 papers

NM_004700.4

p.G245R

c.733G>C

1 paper

NM_004700.4

p.G245W

c.733G>T

1 paper

NM_004700.4

p.G245E

c.734G>A

1 paper

NM_004700.4

p.G245A

c.734G>C

1 paper

NM_004700.4

p.I244N

c.731T>A

1 paper

NM_004700.4

p.I244T

c.731T>C

1 paper

NM_004700.4

p.I244S

c.731T>G

1 paper

NM_004700.4

p.I244V

c.730A>G

1 paper

NM_004700.4

p.F246I

c.736T>A

1 paper

NM_004700.4

p.F246L

c.736T>C

1 paper

NM_004700.4

p.F246V

c.736T>G

1 paper

NM_004700.4

p.F246Y

c.737T>A