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.K225T

c.674A>C

Surrounding Variants

1 paper

NM_004700.4

p.K225Q

c.673A>C

1 paper

NM_004700.4

p.K225E

c.673A>G

1 paper

NM_004700.4

p.K225N

c.675G>C

1 paper

NM_004700.4

p.K225N

c.675G>T

1 paper

NM_004700.4

p.L226M

c.676C>A

1 paper

NM_004700.4

p.L226V

c.676C>G

1 paper

NM_004700.4

p.W224C

c.672G>C

1 paper

NM_004700.4

p.W224C

c.672G>T

1 paper

NM_004700.4

p.W224S

c.671G>C

1 paper

NM_004700.4

p.W224L

c.671G>T

1 paper

NM_004700.4

p.L226Q

c.677T>A

1 paper

NM_004700.4

p.L226P

c.677T>C