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.Q367H

c.1101G>C

Surrounding Variants

7 papers

NM_000218.3

p.Q367H

c.1101G>T

1 paper

NM_181798.2

p.Q240R

c.719A>G

1 paper

NM_000218.3

p.Q367*

c.1099C>T

2 papers

NM_000218.3

p.I368S

c.1103T>G

2 papers

NM_000218.3

p.P369T

c.1105C>A

1 paper

NM_000218.3

p.P369A

c.1105C>G

3 papers

NM_000218.3

p.P369S

c.1105C>T

38 papers

NM_000218.3

p.R366Q

c.1097G>A

11 papers

NM_000218.3

p.R366P

c.1097G>C

2 papers

NM_000218.3

p.R366L

c.1097G>T

1 paper

NM_000218.3

p.P369Q

c.1106C>A

1 paper

NM_000218.3

p.P369R

c.1106C>G