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.D597G

c.1790A>G

Surrounding Variants

1 paper

NM_000218.3

p.D597A

c.1790A>C

1 paper

NM_000218.3

p.K598delFs

c.1792_1793delAA

1 paper

NM_000218.3

p.K598*

c.1792A>T

9 papers

NM_000218.3

p.K598R

c.1793A>G

2 papers

NM_000218.3

p.E596G

c.1787A>G

3 papers

NM_000218.3

p.E596K

c.1786G>A

1 paper

NM_000218.3

p.K598K

c.1794G>A

1 paper

NM_000218.3

p.K598N

c.1794G>C

1 paper

NM_000218.3

p.K598N

c.1794G>T

1 paper

NM_000218.3

p.V595V

c.1785A>T

1 paper

NM_000218.3

p.K598_V599Splc

c.1794+2T>C

1 paper

NM_000218.3

p.V595I

c.1783G>A