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.L212R

c.635T>G

Surrounding Variants

1 paper

NM_004700.4

p.L212Q

c.635T>A

1 paper

NM_004700.4

p.L212P

c.635T>C

1 paper

NM_004700.4

p.L212M

c.634C>A

1 paper

NM_004700.4

p.L212V

c.634C>G

1 paper

NM_004700.4

p.R213S

c.637C>A

1 paper

NM_004700.4

p.R213G

c.637C>G

1 paper

NM_004700.4

p.R213C

c.637C>T

4 papers

NM_004700.4

p.L212_W224del13

c.634_671del39

1 paper

NM_004700.4

p.R213H

c.638G>A

2 papers

NM_004700.4

p.R213P

c.638G>C

1 paper

NM_004700.4

p.R213L

c.638G>T

1 paper

NM_004700.4

p.I211N

c.632T>A