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

7 papers

NM_000218.3

p.D649N

c.1945G>A

Surrounding Variants

1 paper

NM_000218.3

p.D649G

c.1946A>G

4 papers

NM_000218.3

p.V648V

c.1944C>T

1 paper

NM_000218.3

p.D649E

c.1947C>A

1 paper

NM_000218.3

p.D649E

c.1947C>G

12 papers

NM_000218.3

p.V648I

c.1942G>A

1 paper

NM_000218.3

p.E651K

c.1951G>A

1 paper

NM_000218.3

p.E651A

c.1952A>C

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.L652L

c.1956C>A

1 paper

NM_000218.3

p.L652L

c.1956C>T

1 paper

NM_000218.3

p.G646_S647del2

c.1936_1940del6