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.H240P

c.719A>C

Surrounding Variants

9 papers

NM_000218.3

p.H240R

c.719A>G

2 papers

NM_000218.3

p.H240Q

c.720C>A

2 papers

NM_000218.3

p.H240Q

c.720C>G

2 papers

NM_000218.3

p.H240H

c.720C>T

1 paper

NM_000218.3

p.H240Y

c.718C>T

8 papers

NM_000218.3

p.V241I

c.721G>A

17 papers

NM_000218.3

p.V241F

c.721G>T

9 papers

NM_000218.3

p.L239P

c.716T>C

2 papers

NM_000218.3

p.V241A

c.722T>C

2 papers

NM_000218.3

p.V241G

c.722T>G

2 papers

NM_000218.3

p.L239V

c.715C>G

1 paper

NM_000218.3

p.L239L

c.715C>T