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.A342V

c.1025C>T

Surrounding Variants

1 paper

NM_004700.4

p.A342E

c.1025C>A

1 paper

NM_004700.4

p.A342G

c.1025C>G

1 paper

NM_004700.4

p.A342T

c.1024G>A

1 paper

NM_004700.4

p.A342P

c.1024G>C

1 paper

NM_004700.4

p.A342S

c.1024G>T

1 paper

NM_004700.4

p.A343P

c.1027G>C

1 paper

NM_004700.4

p.N344_Q347delFs

c.1031_1040del10

2 papers

NM_004700.4

p.A343D

c.1028C>A

1 paper

NM_004700.4

p.P341Q

c.1022C>A

1 paper

NM_004700.4

p.P341R

c.1022C>G

1 paper

NM_004700.4

p.P341L

c.1022C>T

1 paper

NM_004700.4

p.P341A

c.1021C>G