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.T271A

c.811A>G

Surrounding Variants

1 paper

NM_004519.4

p.L272V

c.814C>G

2 papers

NM_004519.4

p.L272I

c.814C>A

2 papers

NM_004519.4

p.I273N

c.818T>A

1 paper

NM_004519.4

p.G268R

c.802G>C

1 paper

NM_004519.4

p.G268S

c.802G>A

1 paper

NM_004519.4

p.L274H

c.821T>A

1 paper

NM_004519.4

p.I267V

c.799A>G

1 paper

NM_004519.4

p.Y266C

c.797A>G

1 paper

NM_004519.4

p.S276L

c.827C>T

16 papers

NM_004519.4

p.W265L

c.794G>T

1 paper

NM_004519.4

p.W265S

c.794G>C

1 paper

NM_004519.4

p.L278P

c.833T>C