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.F99I

c.295T>A

Surrounding Variants

1 paper

NM_004700.4

p.F99L

c.295T>C

1 paper

NM_004700.4

p.F99V

c.295T>G

1 paper

NM_004700.4

p.F99_H102ins1

c.296_304dup9

1 paper

NM_004700.4

p.F99Y

c.296T>A

1 paper

NM_004700.4

p.F99S

c.296T>C

1 paper

NM_004700.4

p.F99C

c.296T>G

1 paper

NM_004700.4

p.A98D

c.293C>A

1 paper

NM_004700.4

p.F99L

c.297C>A

1 paper

NM_004700.4

p.A98G

c.293C>G

1 paper

NM_004700.4

p.F99L

c.297C>G

1 paper

NM_004700.4

p.A98V

c.293C>T

2 papers

NM_004700.4

p.V100I

c.298G>A