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.E260G

c.779A>G

Surrounding Variants

1 paper

NM_004700.4

p.E260A

c.779A>C

1 paper

NM_004700.4

p.E260V

c.779A>T

18 papers

NM_004700.4

p.E260K

c.778G>A

5 papers

NM_004700.4

p.E260Q

c.778G>C

1 paper

NM_004700.4

p.E260D

c.780G>C

1 paper

NM_004700.4

p.E260D

c.780G>T

2 papers

NM_004700.4

p.K261_S269del9

c.781_806del27

1 paper

NM_004700.4

p.K261Q

c.781A>C

1 paper

NM_004700.4

p.K261E

c.781A>G

5 papers

NM_004700.4

p.A259A

c.777T>C

2 papers

NM_004700.4

p.A259_E260delins

c.777_778delinsCC

1 paper

NM_004700.4

p.K261T

c.782A>C