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.L83Q

c.248T>A

Surrounding Variants

1 paper

NM_004700.4

p.L83P

c.248T>C

1 paper

NM_004700.4

p.L83R

c.248T>G

1 paper

NM_004700.4

p.L83M

c.247C>A

1 paper

NM_004700.4

p.L83V

c.247C>G

1 paper

NM_004700.4

p.Q84K

c.250C>A

1 paper

NM_004700.4

p.Q84E

c.250C>G

1 paper

NM_004700.4

p.Q84P

c.251A>C

1 paper

NM_004700.4

p.Q84R

c.251A>G

1 paper

NM_004700.4

p.Q84L

c.251A>T

1 paper

NM_004700.4

p.R82H

c.245G>A

1 paper

NM_004700.4

p.R82P

c.245G>C

1 paper

NM_004700.4

p.R82L

c.245G>T