Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.A191E

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.A191E
c.572C>A
Surrounding Variants
1 paper
NM_001282112.2
p.A180T
c.538G>A
1 paper
NM_001282112.2
p.E174*
c.520G>T
1 paper
NM_001282112.2
p.C161S
c.482G>C
1 paper
NM_001282112.2
p.C161S
c.481T>A
1 paper
NM_001282112.2
p.T156M
c.467C>T
1 paper
NM_001282112.2
p.V147M
c.439G>A
1 paper
NM_001282112.2
p.T197I
c.590C>T
1 paper
NM_001282112.2
p.I232fs
c.694_695fs
2 papers
NM_001282112.2
p.P237T
c.709C>A
1 paper
NM_001282112.2
p.V242V
c.726G>T
1 paper
NM_001282112.2
p.C118C
c.354C>T
1 paper
NM_001282112.2
p.W115C
c.345G>T
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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."