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.S67C

c.200C>G

Surrounding Variants

1 paper

NM_004700.4

p.S67Y

c.200C>A

1 paper

NM_004700.4

p.S67F

c.200C>T

1 paper

NM_004700.4

p.S67T

c.199T>A

1 paper

NM_004700.4

p.S67P

c.199T>C

2 papers

NM_004700.4

p.S67A

c.199T>G

1 paper

NM_004700.4

p.A68T

c.202G>A

1 paper

NM_004700.4

p.A68P

c.202G>C

1 paper

NM_004700.4

p.A68insFs

c.203_204insC

1 paper

NM_004700.4

p.A68S

c.202G>T

1 paper

NM_004700.4

p.A68D

c.203C>A

1 paper

NM_004700.4

p.A68G

c.203C>G

1 paper

NM_004700.4

p.A68V

c.203C>T