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.R339S

c.1017G>C

Surrounding Variants

1 paper

NM_004700.4

p.R339S

c.1017G>T

1 paper

NM_004700.4

p.R339G

c.1015A>G

1 paper

NM_004700.4

p.R339W

c.1015A>T

1 paper

NM_004700.4

p.P341A

c.1021C>G

1 paper

NM_004700.4

p.P341S

c.1021C>T

1 paper

NM_004700.4

p.R338Q

c.1013G>A

1 paper

NM_004700.4

p.R338P

c.1013G>C

1 paper

NM_004700.4

p.R338L

c.1013G>T

1 paper

NM_004700.4

p.P341Q

c.1022C>A

3 papers

NM_004700.4

p.R338G

c.1012C>G

1 paper

NM_004700.4

p.P341R

c.1022C>G

3 papers

NM_004700.4

p.R338W

c.1012C>T