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

7 papers

NM_000218.3

p.L262P

c.785T>C

Surrounding Variants

2 papers

NM_000218.3

p.L262Q

c.785T>A

3 papers

NM_000218.3

p.L262R

c.785T>G

1 paper

NM_000218.3

p.L262M

c.784C>A

5 papers

NM_000218.3

p.L262V

c.784C>G

2 papers

NM_000218.3

p.I263V

c.787A>G

28 papers

NM_000218.3

p.E261D

c.783G>C

27 papers

NM_000218.3

p.E261D

c.783G>T

6 papers

NM_000218.3

p.E261A

c.782A>C

1 paper

NM_000218.3

p.E261G

c.782A>G

3 papers

NM_000218.3

p.E261V

c.782A>T

2 papers

NM_000218.3

p.I263K

c.788T>A

2 papers

NM_000218.3

p.I263T

c.788T>C