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

4 papers

NM_000218.3

p.H614del1

c.1840_1841delCAC

Surrounding Variants

3 papers

NM_000218.3

p.L613P

c.1838T>C

1 paper

NM_000218.3

p.H614L

c.1841A>T

1 paper

NM_000218.3

p.L613F

c.1837C>T

1 paper

NM_000218.3

p.M612I

c.1836G>A

1 paper

NM_000218.3

p.M612I

c.1836G>C

1 paper

NM_000218.3

p.M612I

c.1836G>T

1 paper

NM_000218.3

p.Q615E

c.1843C>G

3 papers

NM_000218.3

p.Q615*

c.1843C>T

1 paper

NM_000218.3

p.Q615P

c.1844A>C

1 paper

NM_000218.3

p.Q615R

c.1844A>G

1 paper

NM_000218.3

p.M612fs

c.1834_1835fs

1 paper

NM_000218.3

p.Q615H

c.1845G>C