Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.M1L

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
1 paper
NM_004618.5
p.M1L
c.1A>T
Surrounding Variants
1 paper
NM_004618.5
p.M1L
c.1A>C
1 paper
NM_004618.5
p.M1I
c.3G>T
1 paper
NM_004618.5
p.M1insFs
c.2dupT
1 paper
NM_004618.5
p.M1fs
c.1_2fs
1 paper
NM_004618.5
p.M1I
c.3G>C
1 paper
NM_004618.5
p.M1I
c.3G>A
1 paper
NM_004618.5
p.Y8N
c.22T>A
1 paper
NM_004618.5
p.R11L
c.32G>T
1 paper
NM_004618.5
p.V33G
c.98T>G
1 paper
NM_004618.5
p.K35N
c.105A>T
1 paper
NM_004618.5
p.K35N
c.105A>C
3 papers
NM_004618.5
p.L37V
c.109C>G
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