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.K347*

c.1039A>T

Surrounding Variants

1 paper

NM_003286.4

p.C341Y

c.1022G>A

1 paper

NM_003286.4

p.K354R

c.1061A>G

1 paper

NM_003286.4

p.L335Fs

c.1003delinsGAFs

1 paper

NM_003286.4

p.G359E

c.1076G>A

6 papers

NM_003286.4

p.F361S

c.1082T>C

1 paper

NM_003286.4

p.E332K

c.994G>A

2 papers

NM_003286.4

p.R362L

c.1085G>T

1 paper

NM_003286.4

p.G363S

c.1087G>A

2 papers

NM_003286.4

p.G363C

c.1087G>T

1 paper

NM_003286.4

p.G363V

c.1088G>T

1 paper

NM_003286.4

p.E330A

c.989A>C

2 papers

NM_003286.4

p.R364G

c.1090C>G