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.A23G

c.68C>G

Surrounding Variants

1 paper

NM_000218.3

p.A23D

c.68C>A

2 papers

NM_000218.3

p.A23V

c.68C>T

2 papers

NM_000218.3

p.A23T

c.67G>A

1 paper

NM_000218.3

p.A23P

c.67G>C

1 paper

NM_000218.3

p.A23S

c.67G>T

2 papers

NM_000218.3

p.G22G

c.66C>G

2 papers

NM_000218.3

p.R24W

c.70C>T

1 paper

NM_000218.3

p.R24delFs

c.72delG

1 paper

NM_000218.3

p.R24Q

c.71G>A

1 paper

NM_000218.3

p.R24P

c.71G>C

1 paper

NM_000218.3

p.R24L

c.71G>T

1 paper

NM_000218.3

p.G22R

c.64G>C