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

5 papers

NM_000218.3

p.R293H

c.878G>A

Surrounding Variants

1 paper

NM_000218.3

p.R293P

c.878G>C

1 paper

NM_000218.3

p.R293L

c.878G>T

23 papers

NM_000218.3

p.R293C

c.877C>T

4 papers

NM_000218.3

p.V294M

c.880G>A

18 papers

NM_000218.3

p.G292D

c.875G>A

1 paper

NM_000218.3

p.G292A

c.875G>C

1 paper

NM_000218.3

p.V294A

c.881T>C

1 paper

NM_000218.3

p.G292C

c.874G>T

6 papers

NM_000218.3

p.S291S

c.873A>G

1 paper

NM_000218.3

p.E295Q

c.883G>C

1 paper

NM_000218.3

p.E295delFs

c.884delA

4 papers

NM_000218.3

p.E295A

c.884A>C