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

7 papers

NM_000218.3

p.G219E

c.656G>A

Surrounding Variants

1 paper

NM_000218.3

p.G219A

c.656G>C

2 papers

NM_000218.3

p.G219G

c.657G>A

2 papers

NM_000218.3

p.G219G

c.657G>C

3 papers

NM_000218.3

p.Q220K

c.658C>A

1 paper

NM_000218.3

p.Q220*

c.658C>T

1 paper

NM_000218.3

p.Q220fs

c.658_659fs

1 paper

NM_000218.3

p.K218T

c.653A>C

1 paper

NM_000218.3

p.K218R

c.653A>G

2 papers

NM_000218.3

p.Q220L

c.659A>T

1 paper

NM_000218.3

p.K218M

c.653A>T

2 papers

NM_000218.3

p.G219delFs

c.657delG

11 papers

NM_000218.3

p.K218E

c.652A>G