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.R90C

c.268C>T

Surrounding Variants

2 papers

NM_000218.3

p.R90H

c.269G>A

1 paper

NM_000218.3

p.P89P

c.267G>C

1 paper

NM_000218.3

p.R90P

c.269G>C

1 paper

NM_000218.3

p.P89P

c.267G>T

1 paper

NM_000218.3

p.R90delFs

c.270delC

1 paper

NM_000218.3

p.R90_V91delFs

c.269_273del5

1 paper

NM_000218.3

p.P89L

c.266C>T

2 papers

NM_000218.3

p.P89T

c.265C>A

1 paper

NM_000218.3

p.P89S

c.265C>T

2 papers

NM_000218.3

p.V91I

c.271G>A

2 papers

NM_000218.3

p.V91L

c.271G>C

1 paper

NM_000218.3

p.V91F

c.271G>T