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.A3A

c.9G>A

Surrounding Variants

1 paper

NM_000218.3

p.A3A

c.9G>C

1 paper

NM_000218.3

p.A3_A4insFs

c.9_10insT

1 paper

NM_000218.3

p.A3A

c.9G>T

1 paper

NM_000218.3

p.A4T

c.10G>A

1 paper

NM_000218.3

p.A4insFs

c.11dupC

1 paper

NM_000218.3

p.A4G

c.11C>G

4 papers

NM_000218.3

p.A4V

c.11C>T

1 paper

NM_000218.3

p.A2A

c.6C>A

1 paper

NM_000218.3

p.A2A

c.6C>G

1 paper

NM_000218.3

p.A4delins

c.12delinsG

1 paper

NM_000218.3

p.A2A

c.6C>T

1 paper

NM_000218.3

p.A4A

c.12C>T