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.G277R

c.829G>C

Surrounding Variants

1 paper

NM_004700.4

p.G277R

c.829G>A

1 paper

NM_004700.4

p.G277W

c.829G>T

1 paper

NM_004700.4

p.G277E

c.830G>A

2 papers

NM_004700.4

p.G277A

c.830G>C

1 paper

NM_004700.4

p.W276C

c.828G>C

1 paper

NM_004700.4

p.W276C

c.828G>T

1 paper

NM_004700.4

p.G277V

c.830G>T

61 papers

NM_004700.4

p.W276S

c.827G>C

8 papers

NM_004700.4

p.W276L

c.827G>T

1 paper

NM_004700.4

p.T278P

c.832A>C

4 papers

NM_004700.4

p.T278A

c.832A>G

1 paper

NM_004700.4

p.T278S

c.832A>T