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.S5S

c.15C>G

Surrounding Variants

1 paper

NM_000218.3

p.S5S

c.15C>A

1 paper

NM_000218.3

p.S5S

c.15C>T

3 papers

NM_000218.3

p.S6T

c.16T>A

1 paper

NM_000218.3

p.S6insFs

c.18dupC

2 papers

NM_000218.3

p.P7delFs

c.20delC

1 paper

NM_000218.3

p.S6Y

c.17C>A

1 paper

NM_000218.3

p.S5insFs

c.14dupC

1 paper

NM_000218.3

p.A4delins

c.12delinsG

3 papers

NM_000218.3

p.S6S

c.18C>T

1 paper

NM_000218.3

p.A4A

c.12C>T

1 paper

NM_000218.3

p.P7insFs

c.19_20ins5

1 paper

NM_000218.3

p.A4G

c.11C>G