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.V211M

c.631G>A

Surrounding Variants

6 papers

NM_000218.3

p.M210I

c.630G>A

6 papers

NM_000218.3

p.M210I

c.630G>C

6 papers

NM_000218.3

p.M210I

c.630G>T

2 papers

NM_000218.3

p.M210T

c.629T>C

1 paper

NM_000218.3

p.M210V

c.628A>G

2 papers

NM_000218.3

p.V212F

c.634G>T

1 paper

NM_000218.3

p.S209S

c.627C>T

3 papers

NM_000218.3

p.V212A

c.635T>C

1 paper

NM_000218.3

p.V212V

c.636C>G

14 papers

NM_000218.3

p.S209F

c.626C>T

24 papers

NM_000218.3

p.S209P

c.625T>C

2 papers

NM_000218.3

p.S209A

c.625T>G