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.E450Q

c.1348G>C

Surrounding Variants

1 paper

NM_000218.3

p.E450K

c.1348G>A

1 paper

NM_000218.3

p.E450delFs

c.1349delA

1 paper

NM_000218.3

p.E450fs

c.1348_1349fs

2 papers

NM_000218.3

p.E450G

c.1349A>G

1 paper

NM_000218.3

p.R451_R452del2

c.1351_1355del6

5 papers

NM_000218.3

p.R451W

c.1351C>T

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.P448_E449insFs

c.1344_1345insGC

8 papers

NM_000218.3

p.R451Q

c.1352G>A

2 papers

NM_000218.3

p.P448Q

c.1343C>A