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.I203T

c.608T>C

Surrounding Variants

1 paper

NM_004519.4

p.D202N

c.604G>A

1 paper

NM_004519.4

p.I203_L206delFs

c.607_616del10

1 paper

NM_004519.4

p.A208S

c.622G>T

1 paper

NM_004519.4

p.A208V

c.623C>T

1 paper

NM_004519.4

p.S209A

c.625T>G

2 papers

NM_004519.4

p.P211A

c.631C>G

2 papers

NM_004519.4

p.V212L

c.634G>T

1 paper

NM_004519.4

p.V212L

c.634G>C

1 paper

NM_004519.4

p.V212delFs

c.635delA

1 paper

NM_004519.4

p.V215M

c.643G>A

1 paper

NM_004519.4

p.N217D

c.649A>G

1 paper

NM_004519.4

p.N217insFs

c.649_650dupAA