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.E284*

c.850G>T

Surrounding Variants

8 papers

NM_000218.3

p.E284K

c.850G>A

1 paper

NM_000218.3

p.K285_A287insFs

c.853_859dup7

1 paper

NM_000218.3

p.E284A

c.851A>C

2 papers

NM_000218.3

p.E284G

c.851A>G

1 paper

NM_000218.3

p.A283D

c.848C>A

2 papers

NM_000218.3

p.A283G

c.848C>G

3 papers

NM_000218.3

p.A283V

c.848C>T

1 paper

NM_000218.3

p.K285fs

c.853_854fs

2 papers

NM_000218.3

p.K285Q

c.853A>C

6 papers

NM_000218.3

p.A283T

c.847G>A

2 papers

NM_000218.3

p.A283P

c.847G>C

2 papers

NM_000218.3

p.A283S

c.847G>T