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

2 papers

NM_000218.3

p.W188delFs

c.562delT

Surrounding Variants

2 papers

NM_000218.3

p.W188R

c.562T>A

7 papers

NM_000218.3

p.L187P

c.560T>C

3 papers

NM_000218.3

p.W188R

c.562T>C

1 paper

NM_000218.3

p.L187R

c.560T>G

1 paper

NM_000218.3

p.W188insFs

c.562_563insA

4 papers

NM_000218.3

p.G189insFs

c.567dupG

1 paper

NM_000218.3

p.W188fs

c.562_563fs

1 paper

NM_000218.3

p.G189delFs

c.567delG

1 paper

NM_000218.3

p.W188fs

c.562_563fs

1 paper

NM_000218.3

p.G189del1

c.565_566delGGG

1 paper

NM_000218.3

p.L187I

c.559C>A

1 paper

NM_000218.3

p.L187F

c.559C>T