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

14 papers

NM_004700.4

p.R79delFs

c.235delC

Surrounding Variants

1 paper

NM_004700.4

p.K78N

c.234G>C

1 paper

NM_004700.4

p.K78N

c.234G>T

1 paper

NM_004700.4

p.K78T

c.233A>C

1 paper

NM_004700.4

p.K78R

c.233A>G

1 paper

NM_004700.4

p.K78M

c.233A>T

1 paper

NM_004700.4

p.R79S

c.235C>A

1 paper

NM_004700.4

p.R79G

c.235C>G

3 papers

NM_004700.4

p.R79C

c.235C>T

1 paper

NM_004700.4

p.K78Q

c.232A>C

1 paper

NM_004700.4

p.K78E

c.232A>G

1 paper

NM_004700.4

p.R79H

c.236G>A

1 paper

NM_004700.4

p.R79P

c.236G>C