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.V605insFs

c.1813_1814dupGT

Surrounding Variants

2 papers

NM_004519.4

p.A606S

c.1816G>T

1 paper

NM_004519.4

p.Y604insFs

c.1810_1811insT

1 paper

NM_004519.4

p.P608L

c.1823C>T

1 paper

NM_004519.4

p.E612K

c.1834G>A

1 paper

NM_004519.4

p.D615V

c.1844A>T

1 paper

NM_004519.4

p.D615E

c.1845C>G

3 papers

NM_004519.4

p.S617T

c.1850G>C

1 paper

NM_004519.4

p.R607_Q616del10

c.1819_1847del30

1 paper

NM_004519.4

p.M618R

c.1853T>G

1 paper

NM_004519.4

p.M618I

c.1854G>T

1 paper

NM_004519.4

p.M618I

c.1854G>C

1 paper

NM_004519.4

p.M618I

c.1854G>A