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.Y125*

c.375C>G

Surrounding Variants

1 paper

NM_000218.3

p.Y125*

c.375C>A

1 paper

NM_000218.3

p.Y125C

c.374A>G

1 paper

NM_000218.3

p.H126D

c.376C>G

1 paper

NM_000218.3

p.H126P

c.377A>C

9 papers

NM_000218.3

p.H126L

c.377A>T

4 papers

NM_000218.3

p.Y125N

c.373T>A

8 papers

NM_000218.3

p.Y125D

c.373T>G

1 paper

NM_000218.3

p.H126H

c.378C>T

15 papers

NM_000218.3

p.F127L

c.379T>C

2 papers

NM_000218.3

p.V124A

c.371T>C

3 papers

NM_000218.3

p.F127V

c.379T>G

1 paper

NM_000218.3

p.V124G

c.371T>G