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.Q347_A348Splc

c.1041+1G>A

Surrounding Variants

1 paper

NM_004700.4

p.Q347P

c.1040A>C

1 paper

NM_004700.4

p.I346M

c.1038C>G

1 paper

NM_004700.4

p.I346N

c.1037T>A

1 paper

NM_004700.4

p.I346T

c.1037T>C

1 paper

NM_004700.4

p.I346S

c.1037T>G

1 paper

NM_004700.4

p.I346V

c.1036A>G

1 paper

NM_004700.4

p.I346F

c.1036A>T

1 paper

NM_004700.4

p.L345H

c.1034T>A

1 paper

NM_004700.4

p.L345P

c.1034T>C

1 paper

NM_004700.4

p.L345F

c.1033C>T

1 paper

NM_004700.4

p.N344K

c.1032C>A

1 paper

NM_004700.4

p.N344K

c.1032C>G