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

37 papers

NM_001204824.2

p.R110C

c.328C>T

NM_004519.4

p.R230C

c.688C>T

Surrounding Variants

6 papers

NM_004519.4

p.R230S

c.688C>A

15 papers

NM_004519.4

p.R230H

c.689G>A

1 paper

NM_004519.4

p.S228R

c.684C>A

16 papers

NM_004519.4

p.R227Q

c.680G>A

1 paper

NM_004519.4

p.R227G

c.679C>G

1 paper

NM_004519.4

p.Q233R

c.698A>G

6 papers

NM_004519.4

p.R236C

c.706C>T

1 paper

NM_004519.4

p.R236L

c.707G>T

3 papers

NM_004519.4

p.R236H

c.707G>A

1 paper

NM_004519.4

p.M237K

c.710T>A

1 paper

NM_004519.4

p.L222P

c.665T>C

1 paper

NM_004519.4

p.N217_N220delFs

c.651_660del10