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.S585R

c.1755C>G

Surrounding Variants

1 paper

NM_000218.3

p.S585R

c.1755C>A

6 papers

NM_000218.3

p.N586D

c.1756A>G

1 paper

NM_000218.3

p.S585N

c.1754G>A

1 paper

NM_000218.3

p.S585R

c.1753A>C

1 paper

NM_000218.3

p.N586S

c.1757A>G

1 paper

NM_000218.3

p.T587A

c.1759A>G

2 papers

NM_000218.3

p.G584V

c.1751G>T

1 paper

NM_000218.3

p.T587K

c.1760C>A

6 papers

NM_000218.3

p.T587R

c.1760C>G

71 papers

NM_000218.3

p.T587M

c.1760C>T

15 papers

NM_000218.3

p.G584S

c.1750G>A

2 papers

NM_000218.3

p.G584R

c.1750G>C