Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.R640C

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.R640C
c.1918C>T
Surrounding Variants
1 paper
NM_001282112.2
p.D647E
c.1941T>G
1 paper
NM_001282112.2
p.D647E
c.1941T>A
1 paper
NM_001282112.2
p.G656S
c.1966G>A
5 papers
NM_001282112.2
p.C666R
c.1996T>C
2 papers
NM_001282112.2
p.D669A
c.2006A>C
1 paper
NM_001282112.2
p.R681Q
c.2042G>A
1 paper
NM_001282112.2
p.P696L
c.2087C>T
1 paper
NM_001282112.2
p.G703Splc
c.2108-416T>C
1 paper
NM_001282112.2
p.V597insFs
c.1789_1790insT
1 paper
NM_001282112.2
p.V581I
c.1741G>A
1 paper
NM_001282112.2
p.C714Y
c.2141G>A
4 papers
NM_001282112.2
p.S767P
c.2299T>C
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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."