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.V185L

c.553G>C

Surrounding Variants

3 papers

NM_000218.3

p.V185M

c.553G>A

1 paper

NM_000218.3

p.V185L

c.553G>T

1 paper

NM_000218.3

p.V185_L187del0

c.555_560del6

1 paper

NM_000218.3

p.Y184*

c.552C>A

1 paper

NM_000218.3

p.Y184*

c.552C>G

1 paper

NM_000218.3

p.V185A

c.554T>C

25 papers

NM_000218.3

p.Y184S

c.551A>C

1 paper

NM_000218.3

p.Y184C

c.551A>G

1 paper

NM_000218.3

p.Y184F

c.551A>T

1 paper

NM_000218.3

p.V185_L187del0

c.553_561del9

1 paper

NM_000218.3

p.G186_L187del0

c.556_561del6

5 papers

NM_000218.3

p.G186S

c.556G>A