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

2 papers

NM_000218.3

p.S457A

c.1369T>G

Surrounding Variants

1 paper

NM_000218.3

p.S457C

c.1370C>G

1 paper

NM_000218.3

p.S457F

c.1370C>T

1 paper

NM_000218.3

p.H455Q

c.1365C>A

1 paper

NM_000218.3

p.H455Q

c.1365C>G

1 paper

NM_000218.3

p.V458A

c.1373T>C

12 papers

NM_000218.3

p.H455Y

c.1363C>T

NM_181798.2

p.H328Y

c.982C>T

3 papers

NM_000218.3

p.D459N

c.1375G>A

1 paper

NM_000218.3

p.D459H

c.1375G>C

1 paper

NM_000218.3

p.D459Y

c.1375G>T

1 paper

NM_000218.3

p.D459A

c.1376A>C

1 paper

NM_000218.3

p.D459E

c.1377C>A

1 paper

NM_000218.3

p.D459E

c.1377C>G