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.W247R

c.739T>C

Surrounding Variants

1 paper

NM_004519.4

p.W247R

c.739T>A

1 paper

NM_004519.4

p.G245A

c.734G>C

1 paper

NM_004519.4

p.G244A

c.731G>C

1 paper

NM_004519.4

p.L250P

c.749T>C

1 paper

NM_004519.4

p.R239_D241del3

c.715_722del9

1 paper

NM_004519.4

p.S252L

c.755C>T

1 paper

NM_004519.4

p.A253T

c.757G>A

1 paper

NM_004519.4

p.A253V

c.758C>T

3 papers

NM_004519.4

p.M240R

c.719T>G

1 paper

NM_004519.4

p.I254V

c.760A>G

1 paper

NM_004519.4

p.R239P

c.716G>C

1 paper

NM_004519.4

p.C255F

c.764G>T