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.A512V

c.1535C>T

Surrounding Variants

2 papers

NM_000218.3

p.A512D

c.1535C>A

1 paper

NM_000218.3

p.A512G

c.1535C>G

2 papers

NM_000218.3

p.A512T

c.1534G>A

2 papers

NM_000218.3

p.A512P

c.1534G>C

1 paper

NM_000218.3

p.A512S

c.1534G>T

4 papers

NM_000218.3

p.A512fs

c.1534_1535fs

1 paper

NM_000218.3

p.T513fs

c.1537_1538fs

1 paper

NM_000218.3

p.T513A

c.1537A>G

3 papers

NM_000218.3

p.T513S

c.1537A>T

1 paper

NM_000218.3

p.T513N

c.1538C>A

3 papers

NM_000218.3

p.T513S

c.1538C>G

1 paper

NM_000218.3

p.T513I

c.1538C>T