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.T639fs

c.1915_1916fs

Surrounding Variants

1 paper

NM_003286.4

p.T639delFs

c.1915delA

1 paper

NM_003286.4

p.K642E

c.1924A>G

1 paper

NM_003286.4

p.S643F

c.1928C>T

4 papers

NM_003286.4

p.M644L

c.1930A>C

4 papers

NM_003286.4

p.M644L

c.1930A>T

1 paper

NM_003286.4

p.N631D

c.1891A>G

1 paper

NM_003286.4

p.T649S

c.1945A>T

1 paper

NM_003286.4

p.T649S

c.1946C>G

1 paper

NM_003286.4

p.A627V

c.1880C>T

1 paper

NM_003286.4

p.R624Q

c.1871G>A

2 papers

NM_003286.4

p.R621H

c.1862G>A

2 papers

NM_003286.4

p.L617I

c.1849C>A