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.L552P

c.1655T>C

Surrounding Variants

1 paper

NM_000218.3

p.L552I

c.1654C>A

1 paper

NM_000218.3

p.N551insFs

c.1652_1653insT

1 paper

NM_000218.3

p.M553K

c.1658T>A

1 paper

NM_000218.3

p.V554delFs

c.1660delG

1 paper

NM_000218.3

p.N551D

c.1651A>G

1 paper

NM_000218.3

p.N551Y

c.1651A>T

2 papers

NM_000218.3

p.V554M

c.1660G>A

1 paper

NM_000218.3

p.V554L

c.1660G>C

1 paper

NM_000218.3

p.V554L

c.1660G>T

1 paper

NM_000218.3

p.V554fs

c.1660_1661fs

4 papers

NM_000218.3

p.V554A

c.1661T>C

1 paper

NM_000218.3

p.V554G

c.1661T>G