Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000218.3

p.Y536delFs

c.1607_1608delAC

Surrounding Variants

8 papers

NM_000218.3

p.Y536*

c.1608C>A

1 paper

NM_000218.3

p.D537_V538insFs

c.1610_1614dup5

8 papers

NM_000218.3

p.Y536*

c.1608C>G

9 papers

NM_000218.3

p.P535T

c.1603C>A

1 paper

NM_000218.3

p.P535A

c.1603C>G

1 paper

NM_000218.3

p.D537N

c.1609G>A

1 paper

NM_181798.2

p.V411M

c.1231G>A

2 papers

NM_000218.3

p.R533Q

c.1598G>A

1 paper

NM_000218.3

p.R533_K534ins11

c.1597_1601ins33

1 paper

NM_000218.3

p.R533G

c.1597C>G

55 papers

NM_000218.3

p.R539W

c.1615C>T

23 papers

NM_000218.3

p.R533W

c.1597C>T