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

13 papers

NM_000218.3

p.V133I

c.397G>A

Surrounding Variants

2 papers

NM_000218.3

p.V133A

c.398T>C

1 paper

NM_181798.2

p.V6V

c.18C>T

9 papers

NM_000218.3

p.I132L

c.394A>C

1 paper

NM_000218.3

p.L134M

c.400C>A

1 paper

NM_000218.3

p.L134fs

c.400_401fs

1 paper

NM_000218.3

p.L134V

c.400C>G

11 papers

NM_000218.3

p.L134P

c.401T>C

1 paper

NM_000218.3

p.V135delFs

c.403delG

9 papers

NM_000218.3

p.L131P

c.392T>C

5 papers

NM_000218.3

p.V135I

c.403G>A

2 papers

NM_000218.3

p.F130L

c.390C>A

2 papers

NM_000218.3

p.F130L

c.390C>G