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.V106D

c.317T>A

Surrounding Variants

2 papers

NM_000218.3

p.V106V

c.318C>A

1 paper

NM_000218.3

p.V106V

c.318C>G

1 paper

NM_000218.3

p.V106V

c.318C>T

8 papers

NM_000218.3

p.V106I

c.316G>A

4 papers

NM_000218.3

p.Q107*

c.319C>T

1 paper

NM_000218.3

p.H105_V106insFs

c.315_316insC

12 papers

NM_000218.3

p.H105L

c.314A>T

5 papers

NM_000218.3

p.H105N

c.313C>A

5 papers

NM_000218.3

p.H105Y

c.313C>T

12 papers

NM_000218.3

p.Q107H

c.321G>C

12 papers

NM_000218.3

p.Q107H

c.321G>T

1 paper

NM_000218.3

p.H105delFs

c.314_315delAC