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.G186A

c.557G>C

Surrounding Variants

9 papers

NM_000218.3

p.G186D

c.557G>A

5 papers

NM_000218.3

p.G186V

c.557G>T

5 papers

NM_000218.3

p.G186S

c.556G>A

5 papers

NM_000218.3

p.G186R

c.556G>C

5 papers

NM_000218.3

p.G186C

c.556G>T

1 paper

NM_000218.3

p.L187I

c.559C>A

1 paper

NM_000218.3

p.L187F

c.559C>T

1 paper

NM_000218.3

p.G186_L187del0

c.556_561del6

7 papers

NM_000218.3

p.L187P

c.560T>C

1 paper

NM_000218.3

p.V185A

c.554T>C

1 paper

NM_000218.3

p.L187R

c.560T>G

2 papers

NM_000218.3

p.W188delFs

c.562delT