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

2 papers

NM_003286.4

p.G717R

c.2149G>A

Surrounding Variants

2 papers

NM_003286.4

p.G717R

c.2149G>C

2 papers

NM_003286.4

p.G717V

c.2150G>T

7 papers

NM_003286.4

p.T718A

c.2152A>G

1 paper

NM_003286.4

p.A715V

c.2144C>T

1 paper

NM_003286.4

p.I714T

c.2141T>C

1 paper

NM_003286.4

p.Q713H

c.2139G>C

1 paper

NM_003286.4

p.Q713H

c.2139G>T

1 paper

NM_003286.4

p.Q713E

c.2137C>G

1 paper

NM_003286.4

p.L721R

c.2162T>G

1 paper

NM_003286.4

p.K712R

c.2135A>G

1 paper

NM_003286.4

p.N722H

c.2164A>C

1 paper

NM_003286.4

p.N722D

c.2164A>G