Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.T519A

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
Toprimaa 36–181UCSCToprim domain
Topoisom_bacaa 195–607UCSCDNA topoisomerase
Zn_ribbon_Top1aa 655–694UCSCTopoisomerase DNA binding C4 zinc finger
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
3 papers
NM_004618.5
p.T519A
c.1555A>G
Surrounding Variants
1 paper
NM_004618.5
p.T519T
c.1557C>A
1 paper
NM_004618.5
p.L518_A521del4
c.1552_1562del12
1 paper
NM_004618.5
p.S498S
c.1494C>T
1 paper
NM_004618.5
p.V493delFs
c.1477delC
1 paper
NM_004618.5
p.K489_I490Splc
c.1468-11G>T
1 paper
NM_004618.5
p.D488N
c.1462G>A
1 paper
NM_004618.5
p.W486*
c.1458G>A
1 paper
NM_004618.5
p.W486*
c.1457G>A
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
4 papers
NM_004618.5
p.D479G
c.1436A>G
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