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

2 papers

NM_000218.3

p.V141L

c.421G>T

Surrounding Variants

87 papers

NM_000218.3

p.V141M

c.421G>A

2 papers

NM_000218.3

p.V141L

c.421G>C

5 papers

NM_000218.3

p.S140R

c.420C>A

5 papers

NM_000218.3

p.S140R

c.420C>G

2 papers

NM_000218.3

p.V141A

c.422T>C

2 papers

NM_000218.3

p.V141G

c.422T>G

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

1 paper

NM_000218.3

p.L142V

c.424C>G

1 paper

NM_000218.3

p.L142delFs

c.425delT

2 papers

NM_000218.3

p.L142fs

c.424_425fs