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.Q640L

c.1919A>T

Surrounding Variants

1 paper

NM_000218.3

p.Q640*

c.1918C>T

2 papers

NM_000218.3

p.P641L

c.1922C>T

1 paper

NM_000218.3

p.T639I

c.1916C>T

1 paper

NM_000218.3

p.C642R

c.1924T>C

2 papers

NM_000218.3

p.C642F

c.1925G>T

1 paper

NM_000218.3

p.I638T

c.1913T>C

1 paper

NM_000218.3

p.I638V

c.1912A>G

1 paper

NM_000218.3

p.C642*

c.1926C>A

3 papers

NM_000218.3

p.C642W

c.1926C>G

78 papers

NM_000218.3

p.G643S

c.1927G>A

1 paper

NM_000218.3

p.G643C

c.1927G>T

1 paper

NM_000218.3

p.G643D

c.1928G>A