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.Y80S

c.239A>C

Surrounding Variants

1 paper

NM_004700.4

p.Y80C

c.239A>G

1 paper

NM_004700.4

p.Y80F

c.239A>T

1 paper

NM_004700.4

p.Y80N

c.238T>A

1 paper

NM_004700.4

p.Y80H

c.238T>C

1 paper

NM_004700.4

p.Y80D

c.238T>G

1 paper

NM_004700.4

p.R81S

c.241C>A

1 paper

NM_004700.4

p.R81G

c.241C>G

1 paper

NM_004700.4

p.R81C

c.241C>T

1 paper

NM_004700.4

p.R79H

c.236G>A

1 paper

NM_004700.4

p.R81H

c.242G>A

1 paper

NM_004700.4

p.R79P

c.236G>C

1 paper

NM_004700.4

p.R81P

c.242G>C