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.L274P

c.821T>C

Surrounding Variants

34 papers

NM_004700.4

p.L274H

c.821T>A

1 paper

NM_004700.4

p.L274R

c.821T>G

1 paper

NM_004700.4

p.L274V

c.820C>G

1 paper

NM_004700.4

p.L274F

c.820C>T

12 papers

NM_004700.4

p.W275R

c.823T>A

12 papers

NM_004700.4

p.W275R

c.823T>C

1 paper

NM_004700.4

p.W275G

c.823T>G

1 paper

NM_004700.4

p.S273W

c.818C>G

1 paper

NM_004700.4

p.S273L

c.818C>T

6 papers

NM_004700.4

p.W275S

c.824G>C

1 paper

NM_004700.4

p.W275L

c.824G>T

7 papers

NM_004700.4

p.W275C

c.825G>C