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.L619S

c.1856T>C

Surrounding Variants

3 papers

NM_000218.3

p.L619F

c.1857G>C

3 papers

NM_000218.3

p.L619F

c.1857G>T

9 papers

NM_000218.3

p.L619M

c.1855T>A

1 paper

NM_000218.3

p.H620D

c.1858C>G

1 paper

NM_000218.3

p.S618C

c.1853C>G

5 papers

NM_000218.3

p.H620H

c.1860C>T

7 papers

NM_000218.3

p.G621S

c.1861G>A

2 papers

NM_000218.3

p.G621D

c.1862G>A

1 paper

NM_000218.3

p.L617F

c.1849C>T

1 paper

NM_000218.3

p.G622S

c.1864G>A

1 paper

NM_000218.3

p.S623G

c.1867A>G

1 paper

NM_000218.3

p.Q615H

c.1845G>C