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.K248N

c.744G>T

Surrounding Variants

1 paper

NM_003286.4

p.K248N

c.744G>C

1 paper

NM_003286.4

p.P251S

c.751C>T

1 paper

NM_003286.4

p.A253A

c.759A>T

1 paper

NM_003286.4

p.E255K

c.763G>A

1 paper

NM_003286.4

p.H266Y

c.796C>T

1 paper

NM_003286.4

p.H266R

c.797A>G

1 paper

NM_003286.4

p.T270insFs

c.810dupC

1 paper

NM_003286.4

p.K276insFs

c.827dupA

1 paper

NM_003286.4

p.N277K

c.831T>A

1 paper

NM_003286.4

p.N277K

c.831T>G

1 paper

NM_003286.4

p.F278V

c.832T>G

1 paper

NM_003286.4

p.F278C

c.833T>G