Varaico: Literature-Extracted Genetic Variants

TOP1

320 papers

RefSeq Summary

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single stran...

Pfam Domains

Topoisom_I_Naa 215–429UCSCEukaryotic DNA topoisomerase I, DNA binding fragment

Topoisom_Iaa 432–665UCSCEukaryotic DNA topoisomerase I, catalytic core

Topo_C_assocaa 695–765UCSCC-terminal topoisomerase domain

Gene Aliases

HGNC Name

DNA topoisomerase I

HGNC Previous Name

topoisomerase (DNA) I

Papers

RefSeq ID

Protein change

DNA change

1–12 of 310 variants

12 papers

NM_003286.4

p.Y723F

c.2168A>T

7 papers

NM_003286.4

p.E418K

c.1252G>A

7 papers

NM_003286.4

p.A653P

c.1957G>C

7 papers

NM_003286.4

p.T718A

c.2152A>G

6 papers

NM_003286.4

p.F361S

c.1082T>C

6 papers

NM_003286.4

p.R364H

c.1091G>A

6 papers

NM_003286.4

p.D533G

c.1598A>G

5 papers

NM_003286.4

p.N722S

c.2165A>G

4 papers

NM_003286.4

p.F240I

c.718T>A

4 papers

NM_003286.4

p.M644L

c.1930A>C

4 papers

NM_003286.4

p.M644L

c.1930A>T

4 papers

NM_003286.4

p.E710G

c.2129A>G