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

3 papers

NM_004700.4

p.G37S

c.109G>A

Surrounding Variants

1 paper

NM_004700.4

p.G37R

c.109G>C

2 papers

NM_004700.4

p.G37C

c.109G>T

1 paper

NM_004700.4

p.G37D

c.110G>A

1 paper

NM_004700.4

p.G37A

c.110G>C

1 paper

NM_004700.4

p.G37V

c.110G>T

1 paper

NM_004700.4

p.A36E

c.107C>A

1 paper

NM_004700.4

p.A36G

c.107C>G

1 paper

NM_004700.4

p.A36V

c.107C>T

1 paper

NM_004700.4

p.A36delFs

c.108delG

1 paper

NM_004700.4

p.A36T

c.106G>A

1 paper

NM_004700.4

p.G38R

c.112G>A

1 paper

NM_004700.4

p.A36P

c.106G>C