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.W276G

c.826T>G

Surrounding Variants

2 papers

NM_004700.4

p.W276R

c.826T>A

2 papers

NM_004700.4

p.W276R

c.826T>C

1 paper

NM_004700.4

p.G277insFs

c.831dupG

61 papers

NM_004700.4

p.W276S

c.827G>C

7 papers

NM_004700.4

p.W275C

c.825G>C

8 papers

NM_004700.4

p.W276L

c.827G>T

6 papers

NM_004700.4

p.W275C

c.825G>T

6 papers

NM_004700.4

p.W275S

c.824G>C

1 paper

NM_004700.4

p.W276C

c.828G>C

1 paper

NM_004700.4

p.W275L

c.824G>T

1 paper

NM_004700.4

p.W276C

c.828G>T

1 paper

NM_004700.4

p.G277R

c.829G>A