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.S337F

c.1010C>T

Surrounding Variants

2 papers

NM_004519.4

p.L338V

c.1012T>G

1 paper

NM_004519.4

p.F336F

c.1008T>C

1 paper

NM_004519.4

p.F336I

c.1006T>A

1 paper

NM_004519.4

p.T335I

c.1004C>T

2 papers

NM_004519.4

p.G340V

c.1019G>T

1 paper

NM_004519.4

p.A334T

c.1000G>A

1 paper

NM_004519.4

p.G340_V341insFs

c.1020_1021ins5

1 paper

NM_004519.4

p.A333S

c.997G>T

1 paper

NM_004519.4

p.S342F

c.1025C>T

1 paper

NM_004519.4

p.F344C

c.1031T>G

7 papers

NM_004519.4

p.R330L

c.989G>T

5 papers

NM_004519.4

p.R330H

c.989G>A