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

4 papers

NM_004700.4

p.L295P

c.884T>C

Surrounding Variants

1 paper

NM_004700.4

p.L295Q

c.884T>A

1 paper

NM_004700.4

p.L295R

c.884T>G

34 papers

NM_004700.4

p.G296S

c.886G>A

1 paper

NM_004700.4

p.W294C

c.882G>C

1 paper

NM_004700.4

p.G296R

c.886G>C

2 papers

NM_004700.4

p.G296C

c.886G>T

1 paper

NM_004700.4

p.W294C

c.882G>T

8 papers

NM_004700.4

p.G296D

c.887G>A

1 paper

NM_004700.4

p.W294*

c.881G>A

2 papers

NM_004700.4

p.G296A

c.887G>C

1 paper

NM_004700.4

p.G296V

c.887G>T

1 paper

NM_004700.4

p.W294R

c.880T>A