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

1–12 of 418 variants

48 papers

NM_004519.4

p.A315T

c.943G>A

36 papers

NM_004519.4

p.R230C

c.688C>T

35 papers

NM_004519.4

p.W309R

c.925T>C

32 papers

NM_004519.4

p.W309R

c.925T>A

27 papers

NM_004519.4

p.G310V

c.929G>T

21 papers

NM_004519.4

p.P574S

c.1720C>T

17 papers

NM_004519.4

p.R330C

c.988C>T

16 papers

NM_004519.4

p.R227Q

c.680G>A

16 papers

NM_004519.4

p.W265L

c.794G>T

15 papers

NM_004519.4

p.R230H

c.689G>A

14 papers

NM_004519.4

p.D305G

c.914A>G

9 papers

NM_004519.4

p.A306T

c.916G>A