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.F139C

c.416T>G

Surrounding Variants

2 papers

NM_000218.3

p.F139S

c.416T>C

1 paper

NM_000218.3

p.F139L

c.417C>A

1 paper

NM_000218.3

p.F139_S140insFs

c.417_418ins4

1 paper

NM_000218.3

p.F139L

c.417C>G

1 paper

NM_000218.3

p.F139L

c.415T>C

5 papers

NM_000218.3

p.S140R

c.418A>C

124 papers

NM_000218.3

p.S140G

c.418A>G

3 papers

NM_000218.3

p.S140C

c.418A>T

2 papers

NM_000218.3

p.I138V

c.412A>G

1 paper

NM_000218.3

p.I138F

c.412A>T

5 papers

NM_000218.3

p.S140R

c.420C>A

5 papers

NM_000218.3

p.S140R

c.420C>G