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.T309A

c.925A>G

Surrounding Variants

4 papers

NM_000218.3

p.T309S

c.925A>T

7 papers

NM_000218.3

p.T309R

c.926C>G

12 papers

NM_000218.3

p.T309I

c.926C>T

3 papers

NM_000218.3

p.V308D

c.923T>A

3 papers

NM_000218.3

p.V308A

c.923T>C

20 papers

NM_000218.3

p.V310I

c.928G>A

1 paper

NM_000218.3

p.V308I

c.922G>A

6 papers

NM_000218.3

p.V310L

c.928G>C

1 paper

NM_000218.3

p.V308L

c.922G>C

1 paper

NM_000218.3

p.V308F

c.922G>T

1 paper

NM_000218.3

p.V307_V308Splc

c.922-1G>A

5 papers

NM_000218.3

p.V307_V308Splc

c.922-1G>C