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

6 papers

NM_000218.3

p.D202Splc

c.605-2A>G

Surrounding Variants

1 paper

NM_000218.3

p.D202insFs

c.605_606insG

1 paper

NM_000218.3

p.D202G

c.605A>G

1 paper

NM_000218.3

p.D202E

c.606C>G

8 papers

NM_000218.3

p.L203P

c.608T>C

1 paper

NM_000218.3

p.V206_A208ins1

c.617_622dup6

17 papers

NM_000218.3

p.I204F

c.610A>T

1 paper

NM_000218.3

p.D202Splc

c.605-10C>T

1 paper

NM_000218.3

p.I204N

c.611T>A

12 papers

NM_000218.3

p.I204M

c.612C>G

1 paper

NM_000218.3

p.I204I

c.612C>T

1 paper

NM_000218.3

p.V207_V212del0

c.619_636del18

2 papers

NM_000218.3

p.D202Splc

c.605-11G>A