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.R508H

c.1523G>A

Surrounding Variants

2 papers

NM_003286.4

p.R508C

c.1522C>T

1 paper

NM_003286.4

p.E510Q

c.1528G>C

1 paper

NM_003286.4

p.S506L

c.1517C>T

3 papers

NM_003286.4

p.G503S

c.1507G>A

1 paper

NM_003286.4

p.E517K

c.1549G>A

2 papers

NM_003286.4

p.A499V

c.1496C>T

1 paper

NM_003286.4

p.E497*

c.1489G>T

1 paper

NM_003286.4

p.E495K

c.1483G>A

1 paper

NM_003286.4

p.E522fs

c.1564_1565fs

1 paper

NM_003286.4

p.G490S

c.1468G>A

1 paper

NM_003286.4

p.A486V

c.1457C>T

1 paper

NM_003286.4

p.G531W

c.1591G>T