Varaico: Literature-Extracted Genetic Variants

TOP3A

119 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

Toprimaa 36–181UCSCToprim domain

Topoisom_bacaa 195–607UCSCDNA topoisomerase

Zn_ribbon_Top1aa 655–694UCSCTopoisomerase DNA binding C4 zinc finger

Zn_ribbon_GRFaa 811–852UCSCGRF zinc finger

Gene Aliases

HGNC Name

DNA topoisomerase III alpha

HGNC Previous Symbol

TOP3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 148 variants

8 papers

NM_004618.5

p.M100V

c.298A>G

8 papers

NM_004618.5

p.R135*

c.403C>T

5 papers

NM_004618.5

p.A176V

c.527C>T

5 papers

NM_004618.5

p.L584R

c.1751T>G

5 papers

NM_004618.5

p.P757insFs

c.2271dupC

4 papers

NM_004618.5

p.Y362F

c.1085A>T

4 papers

NM_004618.5

p.D479G

c.1436A>G

4 papers

NM_004618.5

p.R758fs

c.2272_2273fs

3 papers

NM_004618.5

p.L37V

c.109C>G

3 papers

NM_004618.5

p.A45V

c.134C>T

3 papers

NM_004618.5

p.R103Q

c.308G>A

3 papers

NM_004618.5

p.T519A

c.1555A>G