Varaico: Literature-Extracted Genetic Variants

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

Topoisom_bacaa 195–607UCSCDNA topoisomerase

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

2 papers

NM_004618.5

p.D205G

c.614A>G

Surrounding Variants

1 paper

NM_004618.5

p.Q208*

c.622C>T

1 paper

NM_004618.5

p.I214insFs

c.642dupT

1 paper

NM_004618.5

p.R177*

c.529C>T

5 papers

NM_004618.5

p.A176V

c.527C>T

1 paper

NM_004618.5

p.R175Q

c.524G>A

1 paper

NM_004618.5

p.V173_L174delFs

c.518_521del4

1 paper

NM_004618.5

p.V173M

c.517G>A

1 paper

NM_004618.5

p.L171delFs

c.512delA

1 paper

NM_004618.5

p.N170I

c.509A>T

1 paper

NM_004618.5

p.F218S

c.653T>C

1 paper

NM_004618.5

p.L224fs

c.670_671fs

1 paper

NM_004618.5

p.L224delFs

c.671_672delCA