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

5 papers

NM_000218.3

p.V124I

c.370G>A

Surrounding Variants

1 paper

NM_000218.3

p.V124F

c.370G>T

2 papers

NM_000218.3

p.V124A

c.371T>C

1 paper

NM_000218.3

p.V124G

c.371T>G

1 paper

NM_000218.3

p.F123Y

c.368T>A

2 papers

NM_000218.3

p.F123C

c.368T>G

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.Y125C

c.374A>G

1 paper

NM_000218.3

p.C122W

c.366C>G

1 paper

NM_000218.3

p.Y125*

c.375C>A

1 paper

NM_000218.3

p.Y125*

c.375C>G

16 papers

NM_000218.3

p.C122Y

c.365G>A