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

29 papers

NM_000218.3

p.D317N

c.949G>A

Surrounding Variants

1 paper

NM_000218.3

p.D317H

c.949G>C

4 papers

NM_000218.3

p.D317Y

c.949G>T

5 papers

NM_000218.3

p.D317A

c.950A>C

9 papers

NM_000218.3

p.D317G

c.950A>G

1 paper

NM_000218.3

p.D317E

c.951C>A

1 paper

NM_000218.3

p.D317E

c.951C>G

18 papers

NM_000218.3

p.G316E

c.947G>A

3 papers

NM_000218.3

p.G316A

c.947G>C

2 papers

NM_000218.3

p.G316V

c.947G>T

1 paper

NM_000218.3

p.K318E

c.952A>G

1 paper

NM_181798.2

p.K191_V192delFs

c.572_576del5

9 papers

NM_000218.3

p.G316R

c.946G>A