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.G216fs

c.646_647fs

Surrounding Variants

2 papers

NM_000218.3

p.G216R

c.646G>C

1 paper

NM_000218.3

p.V215V

c.645G>A

1 paper

NM_000218.3

p.G216G

c.648C>A

1 paper

NM_000218.3

p.G216G

c.648C>T

1 paper

NM_000218.3

p.V215A

c.644T>C

6 papers

NM_000218.3

p.V215G

c.644T>G

1 paper

NM_000218.3

p.G216delFs

c.646_647delGG

23 papers

NM_000218.3

p.V215M

c.643G>A

3 papers

NM_000218.3

p.V215L

c.643G>C

2 papers

NM_000218.3

p.V215L

c.643G>T

1 paper

NM_000218.3

p.S217T

c.649T>A

2 papers

NM_000218.3

p.S217A

c.649T>G