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.V186A

c.557T>C

Surrounding Variants

1 paper

NM_004700.4

p.V186E

c.557T>A

1 paper

NM_004700.4

p.V186G

c.557T>G

1 paper

NM_004700.4

p.V186M

c.556G>A

1 paper

NM_004700.4

p.V186L

c.556G>C

1 paper

NM_004700.4

p.V186L

c.556G>T

2 papers

NM_004700.4

p.A187T

c.559G>A

1 paper

NM_004700.4

p.A187P

c.559G>C

1 paper

NM_004700.4

p.A187S

c.559G>T

1 paper

NM_004700.4

p.A187D

c.560C>A

3 papers

NM_004700.4

p.S185W

c.554C>G

1 paper

NM_004700.4

p.A187G

c.560C>G

2 papers

NM_004700.4

p.S185L

c.554C>T