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

14 papers

NM_004519.4

p.D305G

c.914A>G

Surrounding Variants

2 papers

NM_004519.4

p.D305V

c.914A>T

1 paper

NM_004519.4

p.D305Y

c.913G>T

1 paper

NM_004519.4

p.A306P

c.916G>C

9 papers

NM_004519.4

p.A306T

c.916G>A

5 papers

NM_004519.4

p.A306V

c.917C>T

3 papers

NM_004519.4

p.W308S

c.923G>C

1 paper

NM_004519.4

p.W309G

c.925T>G

35 papers

NM_004519.4

p.W309R

c.925T>C

32 papers

NM_004519.4

p.W309R

c.925T>A

1 paper

NM_004519.4

p.W309*

c.926G>A

1 paper

NM_004519.4

p.W309*

c.927G>A

1 paper

NM_004519.4

p.E301K

c.901G>A