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.A252D

c.755C>A

Surrounding Variants

1 paper

NM_004700.4

p.A252V

c.755C>T

8 papers

NM_004700.4

p.A252P

c.754G>C

1 paper

NM_004700.4

p.F251L

c.753C>A

1 paper

NM_004700.4

p.F251L

c.753C>G

1 paper

NM_004700.4

p.S253T

c.757T>A

2 papers

NM_004700.4

p.S253P

c.757T>C

1 paper

NM_004700.4

p.S253A

c.757T>G

1 paper

NM_004700.4

p.S253Y

c.758C>A

1 paper

NM_004700.4

p.S253C

c.758C>G

2 papers

NM_004700.4

p.S253F

c.758C>T

1 paper

NM_004700.4

p.F251Y

c.752T>A

1 paper

NM_004700.4

p.F251L

c.751T>C