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

57 papers

NM_000218.3

p.G168R

c.502G>C

Surrounding Variants

60 papers

NM_000218.3

p.G168R

c.502G>A

1 paper

NM_000218.3

p.F167F

c.501C>T

2 papers

NM_000218.3

p.G168delFs

c.504delG

1 paper

NM_000218.3

p.F167C

c.500T>G

1 paper

NM_000218.3

p.T169fs

c.505_506fs

1 paper

NM_000218.3

p.T169K

c.506C>A

6 papers

NM_000218.3

p.T169R

c.506C>G

8 papers

NM_000218.3

p.T169M

c.506C>T

1 paper

NM_000218.3

p.F166C

c.497T>G

1 paper

NM_000218.3

p.F166insFs

c.497_498insA

2 papers

NM_000218.3

p.E170K

c.508G>A

2 papers

NM_000218.3

p.F166V

c.496T>G