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.V599L

c.1795G>T

Surrounding Variants

1 paper

NM_000218.3

p.V599L

c.1795G>C

1 paper

NM_000218.3

p.V599E

c.1796T>A

1 paper

NM_000218.3

p.K598_V599Splc

c.1795-2A>G

14 papers

NM_000218.3

p.T600M

c.1799C>T

1 paper

NM_000218.3

p.K598_V599Splc

c.1795-4G>A

1 paper

NM_000218.3

p.K598_V599Splc

c.1795-5C>T

1 paper

NM_000218.3

p.Q601K

c.1801C>A

4 papers

NM_000218.3

p.Q601*

c.1801C>T

1 paper

NM_000218.3

p.K598_V599Splc

c.1795-6C>T

2 papers

NM_000218.3

p.L602M

c.1804C>A

1 paper

NM_000218.3

p.K598_V599Splc

c.1795-10G>A

3 papers

NM_000218.3

p.L602P

c.1805T>C