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

Selected Variant

1 paper

NM_004618.5

p.R475Q

c.1424G>A

Surrounding Variants

4 papers

NM_004618.5

p.D479G

c.1436A>G

1 paper

NM_004618.5

p.G469C

c.1405G>T

1 paper

NM_004618.5

p.Y483insFs

c.1448dupA

1 paper

NM_004618.5

p.Y483*

c.1449T>G

1 paper

NM_004618.5

p.Y483*

c.1449T>A

1 paper

NM_004618.5

p.A467T

c.1399G>A

1 paper

NM_004618.5

p.W486*

c.1457G>A

1 paper

NM_004618.5

p.W486*

c.1458G>A

1 paper

NM_004618.5

p.R464C

c.1390C>T

1 paper

NM_004618.5

p.D488N

c.1462G>A

1 paper

NM_004618.5

p.R439S

c.1315C>A

1 paper

NM_004618.5

p.Q427_G428Splc

c.1282-21G>A