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.R95H

c.284G>A

Surrounding Variants

2 papers

NM_004700.4

p.R95P

c.284G>C

1 paper

NM_004700.4

p.R95L

c.284G>T

1 paper

NM_004700.4

p.R95S

c.283C>A

2 papers

NM_004700.4

p.R95insFs

c.283_284insGT

1 paper

NM_004700.4

p.R95G

c.283C>G

1 paper

NM_004700.4

p.R95C

c.283C>T

1 paper

NM_004700.4

p.R95delFs

c.284delG

1 paper

NM_004700.4

p.R95fs

c.283_284fs

1 paper

NM_004700.4

p.G96S

c.286G>A

1 paper

NM_004700.4

p.G96R

c.286G>C

1 paper

NM_004700.4

p.G96C

c.286G>T

1 paper

NM_004700.4

p.P94H

c.281C>A