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.H455Q

c.1365C>G

Surrounding Variants

1 paper

NM_000218.3

p.H455Q

c.1365C>A

12 papers

NM_000218.3

p.H455Y

c.1363C>T

NM_181798.2

p.H328Y

c.982C>T

2 papers

NM_000218.3

p.S457A

c.1369T>G

1 paper

NM_000218.3

p.S457C

c.1370C>G

1 paper

NM_000218.3

p.S457F

c.1370C>T

1 paper

NM_000218.3

p.D454fs

c.1360_1361fs

1 paper

NM_000218.3

p.D454_D459delFs

c.1360_1375del16

1 paper

NM_000218.3

p.L453_D454insCC

c.1357_1361ins6

2 papers

NM_000218.3

p.L453fs

c.1357_1358fs

1 paper

NM_000218.3

p.V458A

c.1373T>C

5 papers

NM_000218.3

p.R452Q

c.1355G>A

3 papers

NM_000218.3

p.D459N

c.1375G>A