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

6 papers

NM_000218.3

p.E261A

c.782A>C

Surrounding Variants

1 paper

NM_000218.3

p.E261G

c.782A>G

3 papers

NM_000218.3

p.E261V

c.782A>T

21 papers

NM_000218.3

p.E261K

c.781G>A

28 papers

NM_000218.3

p.E261D

c.783G>C

4 papers

NM_000218.3

p.E261Q

c.781G>C

27 papers

NM_000218.3

p.E261D

c.783G>T

5 papers

NM_000218.3

p.E261*

c.781G>T

1 paper

NM_000218.3

p.E261delins

c.781_782delinsCT

1 paper

NM_000218.3

p.E261Fs

c.781_782delinsTFs

3 papers

NM_000218.3

p.E261delins

c.781_782delinsTC

1 paper

NM_000218.3

p.L262M

c.784C>A

5 papers

NM_000218.3

p.L262V

c.784C>G