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.I145V

c.433A>G

Surrounding Variants

1 paper

NM_000218.3

p.I145F

c.433A>T

5 papers

NM_000218.3

p.I145fs

c.433_434fs

1 paper

NM_000218.3

p.I145S

c.434T>G

14 papers

NM_000218.3

p.I145I

c.435C>T

12 papers

NM_000218.3

p.T144A

c.430A>G

5 papers

NM_000218.3

p.T144delFs

c.431delC

16 papers

NM_000218.3

p.E146K

c.436G>A

1 paper

NM_000218.3

p.E146Q

c.436G>C

1 paper

NM_000218.3

p.E146*

c.436G>T

1 paper

NM_000218.3

p.E146delFs

c.437delA

8 papers

NM_000218.3

p.E146G

c.437A>G

1 paper

NM_000218.3

p.S143Y

c.428C>A