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.S229_V230insT

c.685_689ins3

Surrounding Variants

1 paper

NM_004700.4

p.S229T

c.685T>A

1 paper

NM_004700.4

p.S229P

c.685T>C

5 papers

NM_004700.4

p.S229_V230insGC

c.685_689ins6

1 paper

NM_004700.4

p.S229L

c.686C>T

1 paper

NM_004700.4

p.S229delins

c.686_687delinsAC

3 papers

NM_004700.4

p.G228D

c.683G>A

1 paper

NM_004700.4

p.V230M

c.688G>A

1 paper

NM_004700.4

p.G228R

c.682G>C

1 paper

NM_004700.4

p.V230L

c.688G>C

3 papers

NM_004700.4

p.G228C

c.682G>T

1 paper

NM_004700.4

p.V230L

c.688G>T

1 paper

NM_004700.4

p.G228del1

c.682_683delGGC