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

8 papers

NM_000218.3

p.R670K

c.2009G>A

Surrounding Variants

1 paper

NM_000218.3

p.R670_P672delFs

c.2010_2014del5

1 paper

NM_000218.3

p.G671S

c.2011G>A

1 paper

NM_000218.3

p.R669S

c.2007G>C

1 paper

NM_000218.3

p.R669S

c.2007G>T

1 paper

NM_000218.3

p.G671D

c.2012G>A

1 paper

NM_000218.3

p.P672A

c.2014C>G

1 paper

NM_000218.3

p.P672_D673insFs

c.2016_2017ins13

2 papers

NM_000218.3

p.D673N

c.2017G>A

1 paper

NM_000218.3

p.D673H

c.2017G>C

2 papers

NM_000218.3

p.D673G

c.2018A>G

1 paper

NM_000218.3

p.V667A

c.2000T>C

1 paper

NM_000218.3

p.V667M

c.1999G>A