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.E237D

c.711G>T

Surrounding Variants

1 paper

NM_004700.4

p.E237D

c.711G>C

1 paper

NM_004700.4

p.E237A

c.710A>C

1 paper

NM_004700.4

p.E237G

c.710A>G

1 paper

NM_004700.4

p.E237V

c.710A>T

1 paper

NM_004700.4

p.L238M

c.712C>A

1 paper

NM_004700.4

p.L238V

c.712C>G

2 papers

NM_004700.4

p.E237K

c.709G>A

1 paper

NM_004700.4

p.E237Q

c.709G>C

1 paper

NM_004700.4

p.L238Q

c.713T>A

1 paper

NM_004700.4

p.L238P

c.713T>C

1 paper

NM_004700.4

p.L238R

c.713T>G

2 papers

NM_004700.4

p.I239N

c.716T>A