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

48 papers

NM_004519.4

p.A315T

c.943G>A

Surrounding Variants

2 papers

NM_004519.4

p.A315S

c.943G>T

2 papers

NM_004519.4

p.A315V

c.944C>T

2 papers

NM_004519.4

p.L314V

c.940C>G

2 papers

NM_004519.4

p.T313_L314insFs

c.939_940insG

4 papers

NM_004519.4

p.T313I

c.938C>T

1 paper

NM_004519.4

p.T313K

c.938C>A

10 papers

NM_004519.4

p.I317T

c.950T>C

NM_001204824.2

p.I197T

c.590T>C

1 paper

NM_004519.4

p.I312M

c.936C>G

5 papers

NM_004519.4

p.G318S

c.952G>A

2 papers

NM_004519.4

p.I312V

c.934A>G

1 paper

NM_004519.4

p.G318A

c.953G>C

1 paper

NM_004519.4

p.Y319C

c.956A>G