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.V324A

c.971T>C

Surrounding Variants

2 papers

NM_000218.3

p.V324V

c.972C>T

1 paper

NM_000218.3

p.V324I

c.970G>A

2 papers

NM_000218.3

p.V324L

c.970G>C

1 paper

NM_000218.3

p.V324F

c.970G>T

44 papers

NM_000218.3

p.G325R

c.973G>A

7 papers

NM_000218.3

p.W323*

c.969G>A

41 papers

NM_000218.3

p.G325R

c.973G>C

2 papers

NM_000218.3

p.W323C

c.969G>C

5 papers

NM_000218.3

p.G325W

c.973G>T

2 papers

NM_000218.3

p.W323C

c.969G>T

6 papers

NM_000218.3

p.W323*

c.968G>A

6 papers

NM_000218.3

p.G325E

c.974G>A