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.F113C

c.338T>G

Surrounding Variants

1 paper

NM_000218.3

p.F113Y

c.338T>A

1 paper

NM_000218.3

p.F113S

c.338T>C

1 paper

NM_000218.3

p.N112K

c.336C>A

1 paper

NM_000218.3

p.L114F

c.340C>T

1 paper

NM_000218.3

p.N112S

c.335A>G

31 papers

NM_000218.3

p.L114P

c.341T>C

1 paper

NM_000218.3

p.Y111*

c.333C>A

1 paper

NM_000218.3

p.Y111*

c.333C>G

5 papers

NM_000218.3

p.E115K

c.343G>A

5 papers

NM_000218.3

p.E115A

c.344A>C

2 papers

NM_000218.3

p.Y111S

c.332A>C

79 papers

NM_000218.3

p.Y111C

c.332A>G