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.S27G

c.79A>G

Surrounding Variants

1 paper

NM_000218.3

p.S27insFs

c.80_81insGG

1 paper

NM_000218.3

p.S27R

c.79A>C

2 papers

NM_000218.3

p.S27C

c.79A>T

1 paper

NM_000218.3

p.G26G

c.78C>A

1 paper

NM_000218.3

p.G26G

c.78C>G

1 paper

NM_000218.3

p.S27N

c.80G>A

1 paper

NM_000218.3

p.S27T

c.80G>C

2 papers

NM_000218.3

p.G26D

c.77G>A

1 paper

NM_000218.3

p.A28T

c.82G>A

1 paper

NM_000218.3

p.A28P

c.82G>C

1 paper

NM_000218.3

p.A28S

c.82G>T

1 paper

NM_000218.3

p.A28_L30del0

c.83_88del6