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.E578V

c.1733A>T

Surrounding Variants

1 paper

NM_000218.3

p.K579del1

c.1735_1736delAAG

2 papers

NM_000218.3

p.E578Splc

c.1733-1G>A

1 paper

NM_000218.3

p.E578Splc

c.1733-1G>C

1 paper

NM_000218.3

p.K579Q

c.1735A>C

1 paper

NM_000218.3

p.K579E

c.1735A>G

1 paper

NM_000218.3

p.E578Splc

c.1733-4A>G

1 paper

NM_000218.3

p.S580G

c.1738A>G

1 paper

NM_000218.3

p.S580N

c.1739G>A

1 paper

NM_000218.3

p.E578Splc

c.1733-7C>G

4 papers

NM_000218.3

p.K581*

c.1741A>T

1 paper

NM_000218.3

p.E578Splc

c.1733-8C>T

1 paper

NM_000218.3

p.E578Splc

c.1733-9C>A