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

29 papers

NM_000218.3

p.R231H

c.692G>A

Surrounding Variants

1 paper

NM_000218.3

p.R231P

c.692G>C

3 papers

NM_000218.3

p.R231L

c.692G>T

6 papers

NM_000218.3

p.R231S

c.691C>A

66 papers

NM_000218.3

p.R231C

c.691C>T

1 paper

NM_000218.3

p.F232I

c.694T>A

1 paper

NM_000218.3

p.F232L

c.694T>C

1 paper

NM_000218.3

p.F232V

c.694T>G

1 paper

NM_000218.3

p.F232Y

c.695T>A

1 paper

NM_000218.3

p.F232S

c.695T>C

6 papers

NM_000218.3

p.F232C

c.695T>G

2 papers

NM_000218.3

p.I230L

c.688A>C

1 paper

NM_000218.3

p.I230V

c.688A>G