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.P6insFs

c.18dupG

Surrounding Variants

1 paper

NM_004700.4

p.P6Q

c.17C>A

1 paper

NM_004700.4

p.P6R

c.17C>G

1 paper

NM_004700.4

p.P6L

c.17C>T

1 paper

NM_004700.4

p.P6T

c.16C>A

1 paper

NM_004700.4

p.P6A

c.16C>G

1 paper

NM_004700.4

p.P6S

c.16C>T

1 paper

NM_004700.4

p.R7S

c.19C>A

1 paper

NM_004700.4

p.R7G

c.19C>G

1 paper

NM_004700.4

p.R7C

c.19C>T

1 paper

NM_004700.4

p.P5H

c.14C>A

1 paper

NM_004700.4

p.P5R

c.14C>G

1 paper

NM_004700.4

p.P5L

c.14C>T