Varaico: Literature-Extracted Genetic Variants

KCNQ3

464 papers

RefSeq Summary

This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, whic...

Pfam Domains

Ion_transaa 121–363UCSCIon transport protein

KCNQ_channelaa 446–650UCSCKCNQ voltage-gated potassium channel

KCNQC3-Ank-G_bdaa 770–866UCSCAnkyrin-G binding motif of KCNQ2-3

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 3

HGNC Previous Symbol

EBN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004519.4

p.Q218R

c.653A>G

NM_001204824.2

p.Q98R

c.293A>G

Surrounding Variants

1 paper

NM_004519.4

p.G219C

c.655G>T

1 paper

NM_004519.4

p.N217insFs

c.649_650dupAA

1 paper

NM_004519.4

p.G219D

c.656G>A

1 paper

NM_004519.4

p.N217D

c.649A>G

1 paper

NM_004519.4

p.N217_N220delFs

c.651_660del10

1 paper

NM_004519.4

p.V215M

c.643G>A

1 paper

NM_004519.4

p.L222P

c.665T>C

1 paper

NM_004519.4

p.V212delFs

c.635delA

2 papers

NM_004519.4

p.V212L

c.634G>T

1 paper

NM_004519.4

p.V212L

c.634G>C

2 papers

NM_004519.4

p.P211A

c.631C>G

1 paper

NM_004519.4

p.R227G

c.679C>G