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.T624I

c.1871C>T

Surrounding Variants

1 paper

NM_000218.3

p.T624N

c.1871C>A

3 papers

NM_000218.3

p.T624A

c.1870A>G

1 paper

NM_000218.3

p.T624S

c.1870A>T

2 papers

NM_000218.3

p.G626_P631del0

c.1876_1893del18

1 paper

NM_000218.3

p.S623I

c.1868G>T

1 paper

NM_000218.3

p.T624_P630del7

c.1870_1889del21

1 paper

NM_000218.3

p.S623G

c.1867A>G

14 papers

NM_000218.3

p.G626S

c.1876G>A

1 paper

NM_000218.3

p.G626R

c.1876G>C

2 papers

NM_000218.3

p.G626D

c.1877G>A

4 papers

NM_000218.3

p.G626A

c.1877G>C

3 papers

NM_000218.3

p.G626V

c.1877G>T