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.A590P

c.1768G>C

Surrounding Variants

31 papers

NM_000218.3

p.A590T

c.1768G>A

1 paper

NM_000218.3

p.A590S

c.1768G>T

1 paper

NM_000218.3

p.A590G

c.1769C>G

1 paper

NM_000218.3

p.A590V

c.1769C>T

128 papers

NM_000218.3

p.G589D

c.1766G>A

NM_181798.2

p.G462D

c.1385G>A

1 paper

NM_000218.3

p.G589V

c.1766G>T

1 paper

NM_000218.3

p.R591S

c.1771C>A

15 papers

NM_000218.3

p.R591C

c.1771C>T

2 papers

NM_000218.3

p.G589S

c.1765G>A

1 paper

NM_000218.3

p.G589C

c.1765G>T

1 paper

NM_000218.3

p.I588M

c.1764C>G

53 papers

NM_000218.3

p.R591H

c.1772G>A