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

5 papers

NM_004618.5

p.L584R

c.1751T>G

Surrounding Variants

1 paper

NM_004618.5

p.D583Y

c.1747G>T

1 paper

NM_004618.5

p.E587Q

c.1759G>C

1 paper

NM_004618.5

p.E589Q

c.1765G>C

3 papers

NM_004618.5

p.M575V

c.1723A>G

1 paper

NM_004618.5

p.D601fs

c.1801_1802fs

1 paper

NM_004618.5

p.Y613H

c.1837T>C

2 papers

NM_004618.5

p.R558W

c.1672C>T

1 paper

NM_004618.5

p.V551M

c.1651G>A

1 paper

NM_004618.5

p.H541N

c.1621C>A

1 paper

NM_004618.5

p.H538fs

c.1612_1613fs

2 papers

NM_004618.5

p.E629K

c.1885G>A

1 paper

NM_004618.5

p.E629D

c.1887G>T