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.G216G

c.648C>T

Surrounding Variants

1 paper

NM_000218.3

p.G216G

c.648C>A

1 paper

NM_000218.3

p.S217T

c.649T>A

2 papers

NM_000218.3

p.S217A

c.649T>G

1 paper

NM_000218.3

p.S217Y

c.650C>A

1 paper

NM_000218.3

p.S217C

c.650C>G

3 papers

NM_000218.3

p.S217F

c.650C>T

2 papers

NM_000218.3

p.G216R

c.646G>C

2 papers

NM_000218.3

p.G216fs

c.646_647fs

1 paper

NM_000218.3

p.V215V

c.645G>A

11 papers

NM_000218.3

p.K218E

c.652A>G

1 paper

NM_000218.3

p.V215A

c.644T>C

6 papers

NM_000218.3

p.V215G

c.644T>G