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.K515N

c.1545G>C

Surrounding Variants

1 paper

NM_000218.3

p.K515N

c.1545G>T

5 papers

NM_000218.3

p.V516I

c.1546G>A

3 papers

NM_000218.3

p.V516D

c.1547T>A

5 papers

NM_000218.3

p.I514T

c.1541T>C

1 paper

NM_000218.3

p.I514V

c.1540A>G

6 papers

NM_000218.3

p.I517T

c.1550T>C

1 paper

NM_000218.3

p.T513T

c.1539C>T

1 paper

NM_000218.3

p.T513N

c.1538C>A

6 papers

NM_000218.3

p.R518G

c.1552C>G

3 papers

NM_000218.3

p.T513S

c.1538C>G

124 papers

NM_000218.3

p.R518*

c.1552C>T

1 paper

NM_000218.3

p.T513I

c.1538C>T