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

44 papers

NM_000218.3

p.G179S

c.535G>A

Surrounding Variants

3 papers

NM_000218.3

p.G179R

c.535G>C

2 papers

NM_000218.3

p.G179fs

c.535_536fs

1 paper

NM_000218.3

p.G179C

c.535G>T

4 papers

NM_000218.3

p.G179fs

c.535_536fs

1 paper

NM_000218.3

p.G179D

c.536G>A

4 papers

NM_000218.3

p.G179A

c.536G>C

1 paper

NM_000218.3

p.A178D

c.533C>A

1 paper

NM_000218.3

p.A178insFs

c.533_534ins11

1 paper

NM_000218.3

p.A178G

c.533C>G

1 paper

NM_000218.3

p.A178Fs

c.533delinsGGFs

1 paper

NM_000218.3

p.A178V

c.533C>T

27 papers

NM_000218.3

p.A178T

c.532G>A