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

4 papers

NM_003286.4

p.F240I

c.718T>A

Surrounding Variants

1 paper

NM_003286.4

p.E236D

c.708G>C

1 paper

NM_003286.4

p.E236D

c.708G>T

1 paper

NM_003286.4

p.G244D

c.731G>A

1 paper

NM_003286.4

p.P235T

c.703C>A

1 paper

NM_003286.4

p.L234F

c.700C>T

1 paper

NM_003286.4

p.P225L

c.674C>T

1 paper

NM_003286.4

p.G214S

c.640G>A

1 paper

NM_003286.4

p.W205*

c.615G>A

1 paper

NM_003286.4

p.W205Splc

c.615-498C>G

1 paper

NM_003286.4

p.K248N

c.744G>C

1 paper

NM_003286.4

p.K248N

c.744G>T

1 paper

NM_003286.4

p.P251S

c.751C>T