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

17 papers

NM_000218.3

p.Y281C

c.842A>G

Surrounding Variants

1 paper

NM_000218.3

p.Y281F

c.842A>T

2 papers

NM_000218.3

p.Y281*

c.843C>A

2 papers

NM_000218.3

p.Y281*

c.843C>G

1 paper

NM_000218.3

p.L282V

c.844C>G

1 paper

NM_000218.3

p.A283_V294del12

c.847_881del36

9 papers

NM_000218.3

p.V280E

c.839T>A

1 paper

NM_000218.3

p.L282Q

c.845T>A

6 papers

NM_000218.3

p.L282P

c.845T>C

5 papers

NM_000218.3

p.V280A

c.839T>C

1 paper

NM_181798.2

p.L155R

c.464T>G

1 paper

NM_000218.3

p.V280M

c.838G>A

6 papers

NM_000218.3

p.A283T

c.847G>A