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.V360M

c.1078G>A

Surrounding Variants

1 paper

NM_052963.3

p.G356G

c.1068C>T

1 paper

NM_052963.3

p.G367insFs

c.1101dupG

1 paper

NM_052963.3

p.K368fs

c.1102_1103fs

2 papers

NM_052963.3

p.R344C

c.1030C>T

4 papers

NM_052963.3

p.V338L

c.1012G>T

3 papers

NM_052963.3

p.V338L

c.1012G>C

1 paper

NM_052963.3

p.D336A

c.1007A>C

1 paper

NM_052963.3

p.G332A

c.995G>C

1 paper

NM_052963.3

p.K320_L321Splc

c.961-1G>C

2 papers

NM_001258447.1

p.D221N

c.661G>A

NM_052963.3

p.D319N

c.955G>A

1 paper

NM_052963.3

p.I318I

c.954C>T

1 paper

NM_052963.3

p.I318N

c.953T>A