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.H257N

c.769C>A

Surrounding Variants

1 paper

NM_004519.4

p.S258C

c.772A>T

1 paper

NM_004519.4

p.S258R

c.772A>C

1 paper

NM_004519.4

p.A256_H257del2

c.766_770del6

1 paper

NM_004519.4

p.C255_H257del3

c.763_770del9

1 paper

NM_004519.4

p.C255F

c.764G>T

2 papers

NM_004519.4

p.S258R

c.774C>G

1 paper

NM_004519.4

p.S258R

c.774C>A

1 paper

NM_004519.4

p.I254V

c.760A>G

1 paper

NM_004519.4

p.A253V

c.758C>T

1 paper

NM_004519.4

p.A253T

c.757G>A

1 paper

NM_004519.4

p.S252L

c.755C>T

1 paper

NM_004519.4

p.L250P

c.749T>C