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.D272Y

c.814G>T

Surrounding Variants

1 paper

NM_004700.4

p.D272N

c.814G>A

1 paper

NM_004700.4

p.D272H

c.814G>C

1 paper

NM_004700.4

p.D272A

c.815A>C

1 paper

NM_004700.4

p.D272G

c.815A>G

1 paper

NM_004700.4

p.D272V

c.815A>T

1 paper

NM_004700.4

p.A271D

c.812C>A

1 paper

NM_004700.4

p.A271G

c.812C>G

1 paper

NM_004700.4

p.A271V

c.812C>T

1 paper

NM_004700.4

p.D272del1

c.814_815delGAC

1 paper

NM_004700.4

p.A271T

c.811G>A

1 paper

NM_004700.4

p.A271P

c.811G>C

1 paper

NM_004700.4

p.A271S

c.811G>T