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.A323T

c.967G>A

Surrounding Variants

1 paper

NM_004700.4

p.A323P

c.967G>C

1 paper

NM_004700.4

p.A323S

c.967G>T

1 paper

NM_004700.4

p.A323D

c.968C>A

1 paper

NM_004700.4

p.A323G

c.968C>G

1 paper

NM_004700.4

p.A323V

c.968C>T

1 paper

NM_004700.4

p.F322Y

c.965T>A

1 paper

NM_004700.4

p.F322S

c.965T>C

1 paper

NM_004700.4

p.F322C

c.965T>G

1 paper

NM_004700.4

p.L324M

c.970C>A

1 paper

NM_004700.4

p.L324V

c.970C>G

1 paper

NM_004700.4

p.F322I

c.964T>A

1 paper

NM_004700.4

p.F322V

c.964T>G