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.L278L

c.834T>C

Surrounding Variants

1 paper

NM_004519.4

p.L278P

c.833T>C

4 papers

NM_004519.4

p.V279F

c.835G>T

2 papers

NM_004519.4

p.Y280H

c.838T>C

1 paper

NM_004519.4

p.Y280N

c.838T>A

1 paper

NM_004519.4

p.S276L

c.827C>T

1 paper

NM_004519.4

p.V282L

c.844G>C

1 paper

NM_004519.4

p.L274H

c.821T>A

2 papers

NM_004519.4

p.E283G

c.848A>G

1 paper

NM_004519.4

p.E283D

c.849G>T

1 paper

NM_004519.4

p.E283D

c.849G>C

2 papers

NM_004519.4

p.I273N

c.818T>A

1 paper

NM_004519.4

p.K284Q

c.850A>C