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.L11Q

c.32T>A

Surrounding Variants

1 paper

NM_004700.4

p.L11P

c.32T>C

1 paper

NM_004700.4

p.L11R

c.32T>G

2 papers

NM_004700.4

p.G12insFs

c.35_36insG

16 papers

NM_004700.4

p.G12delFs

c.35delG

1 paper

NM_004700.4

p.L11M

c.31C>A

1 paper

NM_004700.4

p.L11V

c.31C>G

1 paper

NM_004700.4

p.G12S

c.34G>A

3 papers

NM_004700.4

p.G12R

c.34G>C

2 papers

NM_004700.4

p.G12C

c.34G>T

2 papers

NM_004700.4

p.G12fs

c.34_35fs

3 papers

NM_004700.4

p.G12D

c.35G>A

1 paper

NM_004700.4

p.G10D

c.29G>A