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.N467S

c.1400A>G

Surrounding Variants

1 paper

NM_052963.3

p.N467T

c.1400A>C

1 paper

NM_052963.3

p.C466Y

c.1397G>A

1 paper

NM_052963.3

p.Q469*

c.1405C>T

1 paper

NM_052963.3

p.T475T

c.1425G>A

2 papers

NM_052963.3

p.S479L

c.1436C>T

1 paper

NM_052963.3

p.I448M

c.1344A>G

1 paper

NM_052963.3

p.L501del1

c.1501_1502delCAG

1 paper

NM_052963.3

p.Q511*

c.1531C>T

1 paper

NM_052963.3

p.G512E

c.1535G>A

1 paper

NM_052963.3

p.N429D

c.1285A>G

1 paper

NM_052963.3

p.L413F

c.1237C>T

1 paper

NM_052963.3

p.T405_T406Splc

c.1216-9C>T