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

2 papers

NM_004700.4

p.W97R

c.289T>C

Surrounding Variants

2 papers

NM_004700.4

p.W97R

c.289T>A

1 paper

NM_004700.4

p.W97G

c.289T>G

1 paper

NM_004700.4

p.W97S

c.290G>C

1 paper

NM_004700.4

p.W97L

c.290G>T

2 papers

NM_004700.4

p.G96D

c.287G>A

1 paper

NM_004700.4

p.G96A

c.287G>C

1 paper

NM_004700.4

p.W97C

c.291G>C

1 paper

NM_004700.4

p.G96V

c.287G>T

1 paper

NM_004700.4

p.W97C

c.291G>T

1 paper

NM_004700.4

p.G96S

c.286G>A

1 paper

NM_004700.4

p.A98T

c.292G>A

1 paper

NM_004700.4

p.G96R

c.286G>C