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

21 papers

NM_000218.3

p.G628S

c.1882G>A

Surrounding Variants

2 papers

NM_000218.3

p.G628R

c.1882G>C

1 paper

NM_000218.3

p.G628C

c.1882G>T

1 paper

NM_000218.3

p.S627R

c.1881C>G

2 papers

NM_000218.3

p.G628D

c.1883G>A

1 paper

NM_000218.3

p.G628A

c.1883G>C

3 papers

NM_000218.3

p.G628V

c.1883G>T

1 paper

NM_000218.3

p.G628G

c.1884C>T

1 paper

NM_000218.3

p.S627insFs

c.1880dupG

1 paper

NM_000218.3

p.S627R

c.1879A>C

1 paper

NM_000218.3

p.G628del1

c.1882_1883delGGC

6 papers

NM_000218.3

p.G629S

c.1885G>A

NM_181798.2

p.G502S

c.1504G>A

1 paper

NM_000218.3

p.G629R

c.1885G>C