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.R228Splc

c.684-1G>T

Surrounding Variants

1 paper

NM_000218.3

p.R228R

c.684G>A

3 papers

NM_000218.3

p.G229S

c.685G>A

6 papers

NM_000218.3

p.G229C

c.685G>T

22 papers

NM_000218.3

p.G229D

c.686G>A

2 papers

NM_000218.3

p.G229V

c.686G>T

1 paper

NM_000218.3

p.R228Splc

c.684-5C>T

2 papers

NM_000218.3

p.I230L

c.688A>C

1 paper

NM_000218.3

p.I230V

c.688A>G

6 papers

NM_000218.3

p.R231S

c.691C>A

66 papers

NM_000218.3

p.R231C

c.691C>T

29 papers

NM_000218.3

p.R231H

c.692G>A

1 paper

NM_000218.3

p.R231P

c.692G>C