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.V221_F222insFs

c.663_664insGT

Surrounding Variants

1 paper

NM_000218.3

p.V221V

c.663G>A

1 paper

NM_000218.3

p.F222fs

c.664_665fs

1 paper

NM_000218.3

p.V221M

c.661G>A

4 papers

NM_000218.3

p.F222C

c.665T>G

1 paper

NM_000218.3

p.Q220H

c.660G>C

1 paper

NM_000218.3

p.Q220H

c.660G>T

2 papers

NM_000218.3

p.Q220L

c.659A>T

3 papers

NM_000218.3

p.A223T

c.667G>A

1 paper

NM_000218.3

p.A223P

c.667G>C

1 paper

NM_000218.3

p.A223S

c.667G>T

3 papers

NM_000218.3

p.Q220K

c.658C>A

1 paper

NM_000218.3

p.A223D

c.668C>A