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

1 paper

NM_004618.5

p.K717Q

c.2149A>C

Surrounding Variants

1 paper

NM_004618.5

p.R722H

c.2165G>A

1 paper

NM_004618.5

p.E732G

c.2195A>G

1 paper

NM_004618.5

p.G738G

c.2214C>T

1 paper

NM_004618.5

p.G739R

c.2215G>C

1 paper

NM_004618.5

p.G739R

c.2215G>A

1 paper

NM_004618.5

p.D742N

c.2224G>A

1 paper

NM_004618.5

p.G755fs

c.2263_2264fs

1 paper

NM_004618.5

p.G755fs

c.2263_2264fs

1 paper

NM_004618.5

p.G755delFs

c.2264delC

2 papers

NM_004618.5

p.P757L

c.2270C>T

4 papers

NM_004618.5

p.R758fs

c.2272_2273fs

5 papers

NM_004618.5

p.P757insFs

c.2271dupC