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

22 papers

NM_004519.4

p.P574S

c.1720C>T

NM_001204824.2

p.P454S

c.1360C>T

Surrounding Variants

1 paper

NM_004519.4

p.P576H

c.1727C>A

1 paper

NM_004519.4

p.P577_S578ins9

c.1729_1733ins27

1 paper

NM_004519.4

p.M570T

c.1709T>C

3 papers

NM_004519.4

p.D569G

c.1706A>G

2 papers

NM_004519.4

p.I568T

c.1703T>C

1 paper

NM_004519.4

p.I568delFs

c.1702delT

1 paper

NM_004519.4

p.K584E

c.1750A>G

1 paper

NM_004519.4

p.Q586P

c.1757A>C

1 paper

NM_004519.4

p.K587R

c.1760A>G

1 paper

NM_004519.4

p.A590T

c.1768G>A

1 paper

NM_004519.4

p.T592P

c.1774A>C

1 paper

NM_004519.4

p.Y604insFs

c.1810_1811insT