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.S395C

c.1183A>T

Surrounding Variants

1 paper

NM_004618.5

p.E398K

c.1192G>A

1 paper

NM_004618.5

p.R388_W389delFs

c.1164_1165delAG

1 paper

NM_004618.5

p.P402L

c.1205C>T

1 paper

NM_004618.5

p.P371S

c.1111C>T

1 paper

NM_004618.5

p.P419A

c.1255C>G

1 paper

NM_004618.5

p.K421delFs

c.1263delT

1 paper

NM_004618.5

p.N424K

c.1272C>A

1 paper

NM_004618.5

p.Q427R

c.1280A>G

4 papers

NM_004618.5

p.Y362F

c.1085A>T

1 paper

NM_004618.5

p.Q427_G428Splc

c.1282-21G>A

1 paper

NM_004618.5

p.R439S

c.1315C>A

1 paper

NM_004618.5

p.R464C

c.1390C>T