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

2 papers

NM_004519.4

p.V289_D290insFs

c.867_868ins5

Surrounding Variants

1 paper

NM_004519.4

p.D290G

c.869A>G

2 papers

NM_004519.4

p.D290N

c.868G>A

2 papers

NM_004519.4

p.E294G

c.881A>G

1 paper

NM_004519.4

p.D285A

c.854A>C

1 paper

NM_004519.4

p.L281_K284del4

c.841_851del12

1 paper

NM_004519.4

p.K284R

c.851A>G

1 paper

NM_004519.4

p.K284Q

c.850A>C

1 paper

NM_004519.4

p.E283D

c.849G>T

1 paper

NM_004519.4

p.E283D

c.849G>C

2 papers

NM_004519.4

p.E283G

c.848A>G

1 paper

NM_004519.4

p.V282L

c.844G>C

5 papers

NM_004519.4

p.E299K

c.895G>A