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.M1I

c.3G>A

Surrounding Variants

1 paper

NM_004700.4

p.M1I

c.3G>C

1 paper

NM_004700.4

p.M1I

c.3G>T

1 paper

NM_004700.4

p.A2T

c.4G>A

1 paper

NM_004700.4

p.A2P

c.4G>C

1 paper

NM_004700.4

p.A2S

c.4G>T

1 paper

NM_004700.4

p.M1K

c.2T>A

1 paper

NM_004700.4

p.M1T

c.2T>C

2 papers

NM_004700.4

p.M1R

c.2T>G

1 paper

NM_004700.4

p.M1L

c.1A>C

2 papers

NM_004700.4

p.M1V

c.1A>G

1 paper

NM_004700.4

p.M1L

c.1A>T

1 paper

NM_004700.4

p.A2D

c.5C>A