Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.Y409*

TOP3B

89 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 4–155UCSCToprim domain
Topoisom_bacaa 169–583UCSCDNA topoisomerase
Zn_ribbon_TOP3Baa 616–655UCSCDNA topoisomerase 3-beta zinc ribbon domain

Gene Aliases

HGNC Name

DNA topoisomerase III beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282112.2
p.Y409*
c.1227T>A
Surrounding Variants
1 paper
NM_001282112.2
p.Y409*
c.1227T>G
1 paper
NM_001282112.2
p.E410E
c.1230G>A
1 paper
NM_001282112.2
p.A405T
c.1213G>A
1 paper
NM_001282112.2
p.A418A
c.1254C>T
1 paper
NM_001282112.2
p.D423N
c.1267G>A
1 paper
NM_001282112.2
p.S443A
c.1327T>G
1 paper
NM_001282112.2
p.V447_L448ins4
c.1341_1342ins12
8 papers
NM_001282112.2
p.R472Q
c.1415G>A
1 paper
NM_001282112.2
p.E498K
c.1492G>A
1 paper
NM_001282112.2
p.H506Q
c.1518T>G
1 paper
NM_001282112.2
p.H506Q
c.1518T>A
1 paper
NM_001282112.2
p.P389insFs
c.1167dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."