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.N722K

c.2166T>G

Surrounding Variants

1 paper

NM_003286.4

p.N722K

c.2166T>A

5 papers

NM_003286.4

p.N722S

c.2165A>G

1 paper

NM_003286.4

p.N722H

c.2164A>C

1 paper

NM_003286.4

p.N722D

c.2164A>G

12 papers

NM_003286.4

p.Y723F

c.2168A>T

1 paper

NM_003286.4

p.L724V

c.2170C>G

1 paper

NM_003286.4

p.L721R

c.2162T>G

1 paper

NM_003286.4

p.D725Y

c.2173G>T

1 paper

NM_003286.4

p.P726L

c.2177C>T

7 papers

NM_003286.4

p.T718A

c.2152A>G

1 paper

NM_003286.4

p.R727S

c.2181G>C

1 paper

NM_003286.4

p.R727S

c.2181G>T