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

3 papers

NM_004618.5

p.R103Q

c.308G>A

Surrounding Variants

8 papers

NM_004618.5

p.M100V

c.298A>G

2 papers

NM_004618.5

p.A95V

c.284C>T

1 paper

NM_004618.5

p.T83P

c.247A>C

1 paper

NM_004618.5

p.Y75N

c.223T>A

1 paper

NM_004618.5

p.D74V

c.221A>T

1 paper

NM_004618.5

p.S65*

c.194C>G

1 paper

NM_004618.5

p.S65*

c.194C>A

1 paper

NM_004618.5

p.S65T

c.193T>A

1 paper

NM_004618.5

p.E115G

c.344A>G

1 paper

NM_004618.5

p.K130_K131Splc

c.391-7A>G

8 papers

NM_004618.5

p.R135*

c.403C>T

1 paper

NM_004618.5

p.R138H

c.413G>A