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.C445S

c.1333T>A

Surrounding Variants

1 paper

NM_000218.3

p.C445S

c.1334G>C

1 paper

NM_000218.3

p.T444K

c.1331C>A

5 papers

NM_000218.3

p.T444M

c.1331C>T

3 papers

NM_000218.3

p.T444S

c.1330A>T

5 papers

NM_000218.3

p.D446N

c.1336G>A

11 papers

NM_000218.3

p.P448insFs

c.1343dupC

1 paper

NM_000218.3

p.D446G

c.1337A>G

4 papers

NM_000218.3

p.P448delFs

c.1343delC

9 papers

NM_000218.3

p.D446E

c.1338C>A

9 papers

NM_000218.3

p.D446E

c.1338C>G

1 paper

NM_000218.3

p.I443V

c.1327A>G

1 paper

NM_000218.3

p.P447H

c.1340C>A