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.G80A

c.239G>C

Surrounding Variants

1 paper

NM_000218.3

p.G80G

c.240C>A

1 paper

NM_000218.3

p.R82_P84ins1

c.244_252dup9

1 paper

NM_000218.3

p.G80G

c.240C>G

1 paper

NM_000218.3

p.G80G

c.240C>T

3 papers

NM_000218.3

p.G80S

c.238G>A

2 papers

NM_000218.3

p.G80R

c.238G>C

1 paper

NM_000218.3

p.G80C

c.238G>T

2 papers

NM_000218.3

p.P81Q

c.242C>A

2 papers

NM_000218.3

p.P81L

c.242C>T

2 papers

NM_000218.3

p.L79R

c.236T>G

1 paper

NM_000218.3

p.L79_G80insFs

c.236_239dup4

1 paper

NM_000218.3

p.L79F

c.235C>T