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.R111Q

c.332G>A

Surrounding Variants

2 papers

NM_052963.3

p.R111W

c.331C>T

1 paper

NM_052963.3

p.V109I

c.325G>A

1 paper

NM_052963.3

p.T94S

c.281C>G

1 paper

NM_052963.3

p.T94S

c.280A>T

1 paper

NM_052963.3

p.A93V

c.278C>T

1 paper

NM_052963.3

p.K52*

c.154A>T

1 paper

NM_052963.3

p.E45K

c.133G>A

1 paper

NM_052963.3

p.A123T

c.367G>A

1 paper

NM_052963.3

p.L133insFs

c.398_399insAG

1 paper

NM_052963.3

p.T139M

c.416C>T

1 paper

NM_052963.3

p.E158K

c.472G>A

1 paper

NM_052963.3

p.A167delFs

c.501delT