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.S330A

c.988T>G

Surrounding Variants

1 paper

NM_000218.3

p.S330Y

c.989C>A

1 paper

NM_000218.3

p.S330F

c.989C>T

1 paper

NM_000218.3

p.A329D

c.986C>A

1 paper

NM_000218.3

p.A329G

c.986C>G

2 papers

NM_000218.3

p.A329V

c.986C>T

6 papers

NM_000218.3

p.A329T

c.985G>A

1 paper

NM_000218.3

p.A329P

c.985G>C

1 paper

NM_000218.3

p.A329S

c.985G>T

1 paper

NM_000218.3

p.C331S

c.991T>A

1 paper

NM_000218.3

p.I328I

c.984C>T

2 papers

NM_000218.3

p.C331Y

c.992G>A

1 paper

NM_000218.3

p.C331S

c.992G>C