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.G316D

c.947G>A

Surrounding Variants

1 paper

NM_004700.4

p.G316A

c.947G>C

6 papers

NM_004700.4

p.G316V

c.947G>T

1 paper

NM_004700.4

p.G316S

c.946G>A

1 paper

NM_004700.4

p.G316R

c.946G>C

1 paper

NM_004700.4

p.G316C

c.946G>T

1 paper

NM_004700.4

p.I317L

c.949A>C

1 paper

NM_004700.4

p.I317N

c.950T>A

1 paper

NM_004700.4

p.I317T

c.950T>C

1 paper

NM_004700.4

p.I317S

c.950T>G

1 paper

NM_004700.4

p.I317M

c.951C>G

1 paper

NM_004700.4

p.L318I

c.952C>A

1 paper

NM_004700.4

p.L318V

c.952C>G