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.L550F

c.1648C>T

Surrounding Variants

1 paper

NM_000218.3

p.N551D

c.1651A>G

1 paper

NM_000218.3

p.N551Y

c.1651A>T

2 papers

NM_181798.2

p.H422delFs

c.1265delA

1 paper

NM_000218.3

p.N551insFs

c.1652_1653insT

5 papers

NM_000218.3

p.G548D

c.1643G>A

1 paper

NM_000218.3

p.L552I

c.1654C>A

1 paper

NM_000218.3

p.G548C

c.1642G>T

1 paper

NM_000218.3

p.H549_R555del0

c.1645_1665del21

1 paper

NM_000218.3

p.L552P

c.1655T>C

3 papers

NM_000218.3

p.Q547R

c.1640A>G

1 paper

NM_000218.3

p.Q547*

c.1639C>T

32 papers

NM_000218.3

p.S546S

c.1638G>A