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

7 papers

NM_004700.4

p.G319D

c.956G>A

Surrounding Variants

1 paper

NM_004700.4

p.G319A

c.956G>C

1 paper

NM_004700.4

p.G319V

c.956G>T

1 paper

NM_004700.4

p.G319S

c.955G>A

1 paper

NM_004700.4

p.G319R

c.955G>C

1 paper

NM_004700.4

p.G319C

c.955G>T

1 paper

NM_004700.4

p.S320P

c.958T>C

1 paper

NM_004700.4

p.S320A

c.958T>G

1 paper

NM_004700.4

p.S320Y

c.959C>A

1 paper

NM_004700.4

p.S320C

c.959C>G

1 paper

NM_004700.4

p.S320F

c.959C>T

2 papers

NM_004700.4

p.L318Q

c.953T>A

1 paper

NM_004700.4

p.L318P

c.953T>C