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.S273T

c.817T>A

Surrounding Variants

1 paper

NM_004700.4

p.S273P

c.817T>C

5 papers

NM_004700.4

p.S273A

c.817T>G

1 paper

NM_004700.4

p.S273W

c.818C>G

1 paper

NM_004700.4

p.S273L

c.818C>T

1 paper

NM_004700.4

p.D272A

c.815A>C

1 paper

NM_004700.4

p.D272G

c.815A>G

1 paper

NM_004700.4

p.D272V

c.815A>T

1 paper

NM_004700.4

p.L274V

c.820C>G

1 paper

NM_004700.4

p.L274F

c.820C>T

1 paper

NM_004700.4

p.D272N

c.814G>A

1 paper

NM_004700.4

p.D272H

c.814G>C

1 paper

NM_004700.4

p.D272Y

c.814G>T