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

13 papers

NM_000218.3

p.R228Splc

c.683+5G>A

Surrounding Variants

1 paper

NM_000218.3

p.R228Splc

c.683+2T>C

1 paper

NM_000218.3

p.R228Splc

c.683+2T>G

1 paper

NM_000218.3

p.R228Splc

c.683+1G>A

2 papers

NM_000218.3

p.R228S

c.684G>C

1 paper

NM_000218.3

p.R228S

c.684G>T

1 paper

NM_000218.3

p.R228T

c.683G>C

2 papers

NM_000218.3

p.R228M

c.683G>T

3 papers

NM_000218.3

p.R228W

c.682A>T

13 papers

NM_000218.3

p.I227L

c.679A>C

2 papers

NM_000218.3

p.I227V

c.679A>G

1 paper

NM_000218.3

p.A226A

c.678C>G

1 paper

NM_000218.3

p.A226A

c.678C>T