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.S143T

c.427T>A

Surrounding Variants

1 paper

NM_000218.3

p.S143P

c.427T>C

1 paper

NM_000218.3

p.S143Y

c.428C>A

2 papers

NM_000218.3

p.S143C

c.428C>G

6 papers

NM_000218.3

p.S143F

c.428C>T

12 papers

NM_000218.3

p.T144A

c.430A>G

5 papers

NM_000218.3

p.T144delFs

c.431delC

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

2 papers

NM_000218.3

p.V141A

c.422T>C

2 papers

NM_000218.3

p.V141G

c.422T>G

1 paper

NM_000218.3

p.I145V

c.433A>G