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

61 papers

NM_000218.3

p.P448R

c.1343C>G

Surrounding Variants

2 papers

NM_000218.3

p.P448Q

c.1343C>A

1 paper

NM_000218.3

p.P448insFs

c.1344dupA

9 papers

NM_000218.3

p.P448L

c.1343C>T

1 paper

NM_000218.3

p.P448_E449insFs

c.1344_1345insGC

3 papers

NM_000218.3

p.P448fs

c.1342_1343fs

3 papers

NM_000218.3

p.P448fs

c.1342_1343fs

1 paper

NM_000218.3

p.P447P

c.1341C>A

3 papers

NM_000218.3

p.E449K

c.1345G>A

2 papers

NM_000218.3

p.E449fs

c.1345_1346fs

10 papers

NM_000218.3

p.E449fs

c.1345_1346fs

1 paper

NM_000218.3

p.P447H

c.1340C>A

1 paper

NM_000218.3

p.P447insFs

c.1340_1341insA