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.M437R

c.1310T>G

Surrounding Variants

6 papers

NM_000218.3

p.M437V

c.1309A>G

2 papers

NM_181798.2

p.T312I

c.935C>T

NM_000218.3

p.T439I

c.1316C>T

1 paper

NM_000218.3

p.E435K

c.1303G>A

3 papers

NM_000218.3

p.V440delFs

c.1319delT

1 paper

NM_000218.3

p.V440fs

c.1318_1319fs

1 paper

NM_000218.3

p.G434E

c.1301G>A

1 paper

NM_000218.3

p.G434A

c.1301G>C

1 paper

NM_000218.3

p.V440A

c.1319T>C

1 paper

NM_000218.3

p.V440G

c.1319T>G

1 paper

NM_000218.3

p.G434R

c.1300G>C

4 papers

NM_000218.3

p.P441S

c.1321C>T

2 papers

NM_000218.3

p.P441L

c.1322C>T