Varaico: Literature-Extracted Genetic Variants

TOP1MT

57 papers

RefSeq Summary

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoi...

Pfam Domains

Topoisom_I_Naa 51–265UCSCEukaryotic DNA topoisomerase I, DNA binding fragment

Topoisom_Iaa 268–501UCSCEukaryotic DNA topoisomerase I, catalytic core

Topo_C_assocaa 531–601UCSCC-terminal topoisomerase domain

Gene Aliases

HGNC Name

DNA topoisomerase I mitochondrial

HGNC Previous Name

topoisomerase (DNA) I, mitochondrial

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052963.3

p.A233V

c.698C>T

Surrounding Variants

1 paper

NM_052963.3

p.V240L

c.718G>T

1 paper

NM_052963.3

p.V240L

c.718G>C

1 paper

NM_052963.3

p.S255fs

c.763_764fs

4 papers

NM_052963.3

p.V256I

c.766G>A

1 paper

NM_052963.3

p.S255delFs

c.765delG

1 paper

NM_052963.3

p.T282delFs

c.844delT

1 paper

NM_052963.3

p.T282fs

c.844_845fs

1 paper

NM_052963.3

p.R284*

c.850C>T

1 paper

NM_052963.3

p.Q310*

c.928C>T

1 paper

NM_052963.3

p.I318N

c.953T>A

1 paper

NM_052963.3

p.I318I

c.954C>T

2 papers

NM_001258447.1

p.D221N

c.661G>A

NM_052963.3

p.D319N

c.955G>A