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.I189L

c.565A>C

Surrounding Variants

1 paper

NM_004700.4

p.I189V

c.565A>G

1 paper

NM_004700.4

p.I189F

c.565A>T

1 paper

NM_004700.4

p.I189N

c.566T>A

1 paper

NM_004700.4

p.I189T

c.566T>C

1 paper

NM_004700.4

p.I189S

c.566T>G

1 paper

NM_004700.4

p.I189M

c.567C>G

1 paper

NM_004700.4

p.V188D

c.563T>A

1 paper

NM_004700.4

p.V188A

c.563T>C

1 paper

NM_004700.4

p.V188G

c.563T>G

1 paper

NM_004700.4

p.V188I

c.562G>A

1 paper

NM_004700.4

p.A190T

c.568G>A

1 paper

NM_004700.4

p.V188L

c.562G>C