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.G629R

c.1885G>C

Surrounding Variants

6 papers

NM_000218.3

p.G629S

c.1885G>A

NM_181798.2

p.G502S

c.1504G>A

2 papers

NM_181798.2

p.G502fs

c.1504_1505fs

NM_000218.3

p.G629fs

c.1885_1886fs

1 paper

NM_000218.3

p.G628G

c.1884C>T

20 papers

NM_000218.3

p.P631insFs

c.1893dupC

1 paper

NM_000218.3

p.G629insFs

c.1886_1887insCC

1 paper

NM_000218.3

p.G629V

c.1886G>T

16 papers

NM_000218.3

p.P631delFs

c.1893delC

NM_181798.2

p.G502delFs

c.1506delC

2 papers

NM_000218.3

p.G629G

c.1887C>A

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.P630T

c.1888C>A