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.F622L

c.1866T>A

Surrounding Variants

2 papers

NM_004519.4

p.F622L

c.1866T>G

2 papers

NM_004519.4

p.F622L

c.1864T>C

1 paper

NM_004519.4

p.V623insFs

c.1868dupT

1 paper

NM_004519.4

p.K624R

c.1871A>G

1 paper

NM_004519.4

p.G620R

c.1858G>A

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

1 paper

NM_004519.4

p.M618R

c.1853T>G

1 paper

NM_004519.4

p.R607_Q616del10

c.1819_1847del30

3 papers

NM_004519.4

p.S617T

c.1850G>C

1 paper

NM_004519.4

p.D615E

c.1845C>G