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.A10A

c.30C>T

Surrounding Variants

4 papers

NM_000218.3

p.A10D

c.29C>A

2 papers

NM_000218.3

p.A10G

c.29C>G

2 papers

NM_000218.3

p.A10V

c.29C>T

5 papers

NM_000218.3

p.E11K

c.31G>A

1 paper

NM_000218.3

p.E11insFs

c.31_32insT

1 paper

NM_000218.3

p.E11G

c.32A>G

1 paper

NM_000218.3

p.E11V

c.32A>T

2 papers

NM_000218.3

p.A10T

c.28G>A

1 paper

NM_000218.3

p.A10P

c.28G>C

1 paper

NM_000218.3

p.A10S

c.28G>T

1 paper

NM_000218.3

p.R9R

c.27G>A

1 paper

NM_000218.3

p.R9S

c.27G>C