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

Selected Variant

1 paper

NM_003286.4

p.Q421R

c.1262A>G

Surrounding Variants

7 papers

NM_003286.4

p.E418K

c.1252G>A

1 paper

NM_003286.4

p.T417I

c.1250C>T

1 paper

NM_003286.4

p.L429F

c.1285C>T

1 paper

NM_003286.4

p.R434Q

c.1301G>A

1 paper

NM_003286.4

p.K436R

c.1307A>G

1 paper

NM_003286.4

p.H406L

c.1217A>T

1 paper

NM_003286.4

p.K402T

c.1205A>C

1 paper

NM_003286.4

p.W401C

c.1203G>C

1 paper

NM_003286.4

p.W401C

c.1203G>T

1 paper

NM_003286.4

p.H399R

c.1196A>G

1 paper

NM_003286.4

p.G398R

c.1192G>A

1 paper

NM_003286.4

p.P397L

c.1190C>T