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

4 papers

NM_000218.3

p.A532V

c.1595C>T

Surrounding Variants

1 paper

NM_000218.3

p.A532E

c.1595C>A

1 paper

NM_000218.3

p.A532G

c.1595C>G

1 paper

NM_000218.3

p.A532T

c.1594G>A

1 paper

NM_000218.3

p.A532P

c.1594G>C

1 paper

NM_000218.3

p.A532S

c.1594G>T

1 paper

NM_000218.3

p.A532insFs

c.1594dupG

1 paper

NM_000218.3

p.R533_K534ins11

c.1597_1601ins33

1 paper

NM_000218.3

p.R533G

c.1597C>G

23 papers

NM_000218.3

p.R533W

c.1597C>T

1 paper

NM_000218.3

p.Q531P

c.1592A>C

1 paper

NM_000218.3

p.Q531L

c.1592A>T

2 papers

NM_000218.3

p.R533Q

c.1598G>A