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.K318K

c.954G>A

Surrounding Variants

7 papers

NM_000218.3

p.K318N

c.954G>C

7 papers

NM_000218.3

p.K318N

c.954G>T

1 paper

NM_000218.3

p.K318T

c.953A>C

2 papers

NM_000218.3

p.V319M

c.955G>A

2 papers

NM_000218.3

p.V319L

c.955G>C

2 papers

NM_000218.3

p.V319L

c.955G>T

1 paper

NM_000218.3

p.K318E

c.952A>G

1 paper

NM_181798.2

p.K191_V192delFs

c.572_576del5

1 paper

NM_000218.3

p.V319E

c.956T>A

1 paper

NM_000218.3

p.V319A

c.956T>C

1 paper

NM_000218.3

p.D317E

c.951C>A

1 paper

NM_000218.3

p.D317E

c.951C>G