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.E336G

c.1007A>G

Surrounding Variants

1 paper

NM_004700.4

p.E336A

c.1007A>C

1 paper

NM_004700.4

p.E336V

c.1007A>T

1 paper

NM_004700.4

p.E336K

c.1006G>A

1 paper

NM_004700.4

p.E336Q

c.1006G>C

1 paper

NM_004700.4

p.E336D

c.1008G>C

1 paper

NM_004700.4

p.E336D

c.1008G>T

1 paper

NM_004700.4

p.K337Q

c.1009A>C

1 paper

NM_004700.4

p.K337E

c.1009A>G

1 paper

NM_004700.4

p.K337T

c.1010A>C

1 paper

NM_004700.4

p.K337R

c.1010A>G

1 paper

NM_004700.4

p.K337M

c.1010A>T

2 papers

NM_004700.4

p.F335Y

c.1004T>A