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.V29L

c.85G>T

Surrounding Variants

2 papers

NM_004700.4

p.V29M

c.85G>A

1 paper

NM_004700.4

p.V29L

c.85G>C

1 paper

NM_004700.4

p.V29E

c.86T>A

1 paper

NM_004700.4

p.V29A

c.86T>C

1 paper

NM_004700.4

p.V29G

c.86T>G

1 paper

NM_004700.4

p.A28D

c.83C>A

1 paper

NM_004700.4

p.A28G

c.83C>G

1 paper

NM_004700.4

p.A28V

c.83C>T

1 paper

NM_004700.4

p.Q30K

c.88C>A

1 paper

NM_004700.4

p.Q30E

c.88C>G

1 paper

NM_004700.4

p.A28T

c.82G>A

1 paper

NM_004700.4

p.A28P

c.82G>C