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

2 papers

NM_000218.3

p.S644delFs

c.1931delG

Surrounding Variants

1 paper

NM_000218.3

p.G643D

c.1928G>A

2 papers

NM_000218.3

p.G643A

c.1928G>C

78 papers

NM_000218.3

p.G643S

c.1927G>A

2 papers

NM_000218.3

p.G645S

c.1933G>A

1 paper

NM_000218.3

p.G643C

c.1927G>T

1 paper

NM_000218.3

p.C642*

c.1926C>A

3 papers

NM_000218.3

p.C642W

c.1926C>G

1 paper

NM_000218.3

p.G646_S647del2

c.1936_1940del6

2 papers

NM_000218.3

p.C642F

c.1925G>T

2 papers

NM_000218.3

p.G646S

c.1936G>A

1 paper

NM_000218.3

p.G646C

c.1936G>T

1 paper

NM_000218.3

p.C642R

c.1924T>C