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

3 papers

NM_000218.3

p.E633G

c.1898A>G

Surrounding Variants

1 paper

NM_000218.3

p.E633V

c.1898A>T

1 paper

NM_000218.3

p.R632S

c.1896A>C

1 paper

NM_000218.3

p.R632S

c.1896A>T

2 papers

NM_000218.3

p.R632K

c.1895G>A

1 paper

NM_000218.3

p.G634V

c.1901G>T

3 papers

NM_000218.3

p.R632fs

c.1894_1895fs

8 papers

NM_000218.3

p.R632fs

c.1894_1895fs

6 papers

NM_000218.3

p.G635R

c.1903G>A

6 papers

NM_000218.3

p.G635R

c.1903G>C

1 paper

NM_000218.3

p.P631H

c.1892C>A

3 papers

NM_000218.3

p.P631R

c.1892C>G

2 papers

NM_000218.3

p.P631L

c.1892C>T