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_181798.2

p.H315R

c.944A>G

Surrounding Variants

1 paper

NM_000218.3

p.H442D

c.1324C>G

1 paper

NM_000218.3

p.I443V

c.1327A>G

2 papers

NM_000218.3

p.P441L

c.1322C>T

4 papers

NM_000218.3

p.P441S

c.1321C>T

3 papers

NM_000218.3

p.T444S

c.1330A>T

1 paper

NM_000218.3

p.T444K

c.1331C>A

5 papers

NM_000218.3

p.T444M

c.1331C>T

1 paper

NM_000218.3

p.V440A

c.1319T>C

1 paper

NM_000218.3

p.V440G

c.1319T>G

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.C445S

c.1333T>A