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.V230G

c.689T>G

Surrounding Variants

19 papers

NM_004700.4

p.V230E

c.689T>A

1 paper

NM_004700.4

p.V230A

c.689T>C

1 paper

NM_004700.4

p.V230M

c.688G>A

1 paper

NM_004700.4

p.V230L

c.688G>C

1 paper

NM_004700.4

p.V230L

c.688G>T

1 paper

NM_004700.4

p.V231I

c.691G>A

1 paper

NM_004700.4

p.V231L

c.691G>C

1 paper

NM_004700.4

p.V231_Y232insGC

c.691_695ins6

1 paper

NM_004700.4

p.V231F

c.691G>T

1 paper

NM_004700.4

p.S229L

c.686C>T

1 paper

NM_004700.4

p.S229delins

c.686_687delinsAC

1 paper

NM_004700.4

p.V231D

c.692T>A