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.T139M

c.416C>T

Surrounding Variants

1 paper

NM_052963.3

p.L133insFs

c.398_399insAG

1 paper

NM_052963.3

p.A123T

c.367G>A

1 paper

NM_052963.3

p.E158K

c.472G>A

1 paper

NM_052963.3

p.A167delFs

c.501delT

3 papers

NM_052963.3

p.E168G

c.503A>G

2 papers

NM_052963.3

p.Q171R

c.512A>G

1 paper

NM_052963.3

p.Q172*

c.514C>T

2 papers

NM_052963.3

p.P193L

c.578C>T

1 paper

NM_052963.3

p.G195G

c.585C>T

4 papers

NM_052963.3

p.R198C

c.592C>T

2 papers

NM_052963.3

p.R200C

c.598C>T

1 paper

NM_052963.3

p.I220I

c.660C>T