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.H334N

c.1000C>A

Surrounding Variants

1 paper

NM_004700.4

p.H334D

c.1000C>G

1 paper

NM_004700.4

p.H334Y

c.1000C>T

1 paper

NM_004700.4

p.H334P

c.1001A>C

1 paper

NM_004700.4

p.H334R

c.1001A>G

1 paper

NM_004700.4

p.H334L

c.1001A>T

1 paper

NM_004700.4

p.K333N

c.999G>C

1 paper

NM_004700.4

p.K333N

c.999G>T

1 paper

NM_004700.4

p.K333T

c.998A>C

1 paper

NM_004700.4

p.K333R

c.998A>G

1 paper

NM_004700.4

p.K333M

c.998A>T

1 paper

NM_004700.4

p.H334Q

c.1002C>A

1 paper

NM_004700.4

p.H334Q

c.1002C>G