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.V110A

c.329T>C

Surrounding Variants

17 papers

NM_000218.3

p.V110I

c.328G>A

1 paper

NM_000218.3

p.V110L

c.328G>C

1 paper

NM_000218.3

p.V110fs

c.328_329fs

1 paper

NM_000218.3

p.V110F

c.328G>T

2 papers

NM_000218.3

p.Y111S

c.332A>C

79 papers

NM_000218.3

p.Y111C

c.332A>G

4 papers

NM_000218.3

p.Y111F

c.332A>T

9 papers

NM_000218.3

p.R109L

c.326G>T

1 paper

NM_000218.3

p.Y111*

c.333C>A

1 paper

NM_000218.3

p.R109insFs

c.325_326insCG

1 paper

NM_000218.3

p.Y111*

c.333C>G

1 paper

NM_000218.3

p.R109C

c.325C>T