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

27 papers

NM_000218.3

p.A178T

c.532G>A

Surrounding Variants

17 papers

NM_000218.3

p.A178P

c.532G>C

2 papers

NM_000218.3

p.A178insFs

c.534dupC

9 papers

NM_000218.3

p.A178fs

c.532_533fs

2 papers

NM_000218.3

p.A178S

c.532G>T

1 paper

NM_000218.3

p.A178fs

c.532_533fs

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.G179_R181insFs

c.536_542dup7

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

1 paper

NM_000218.3

p.A178_G189del0

c.533_565del33