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.S268C

c.803C>G

Surrounding Variants

1 paper

NM_004700.4

p.S268F

c.803C>T

1 paper

NM_004700.4

p.F267L

c.801C>A

1 paper

NM_004700.4

p.F267L

c.801C>G

1 paper

NM_004700.4

p.S269P

c.805T>C

1 paper

NM_004700.4

p.S269A

c.805T>G

1 paper

NM_004700.4

p.S269Y

c.806C>A

1 paper

NM_004700.4

p.S269C

c.806C>G

3 papers

NM_004700.4

p.S269F

c.806C>T

1 paper

NM_004700.4

p.F267Y

c.800T>A

1 paper

NM_004700.4

p.F267S

c.800T>C

1 paper

NM_004700.4

p.F267C

c.800T>G

14 papers

NM_004700.4

p.S269_Y270del1

c.806_808delCCT