Varaico: Literature-Extracted Genetic Variants

TOP2A

335 papers

RefSeq Summary

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation...

Pfam Domains

HATPase_caa 78–224UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_gyraseBaa 266–430UCSCDNA gyrase B

Toprimaa 456–574UCSCToprim domain

TOPRIM_Caa 573–711UCSCC-terminal associated domain of TOPRIM

DNA_topoisoIVaa 713–1172UCSCDNA gyrase/topoisomerase IV, subunit A

DTHCTaa 1430–1522UCSCDTHCT (NUC029) region

Gene Aliases

HGNC Name

DNA topoisomerase II alpha

HGNC Previous Symbol

TOP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001067.4

p.G52S

c.154G>A

Surrounding Variants

1 paper

NM_001067.4

p.I51fs

c.151_152fs

3 papers

NM_001067.4

p.Y50F

c.149A>T

1 paper

NM_001067.4

p.Y50C

c.149A>G

5 papers

NM_001067.4

p.D48N

c.142G>A

1 paper

NM_001067.4

p.P47fs

c.139_140fs

1 paper

NM_001067.4

p.T58A

c.172A>G

1 paper

NM_001067.4

p.I43I

c.129T>A

1 paper

NM_001067.4

p.K36M

c.107A>T

2 papers

NM_001067.4

p.I33S

c.98T>G

1 paper

NM_001067.4

p.E31K

c.91G>A

1 paper

NM_001067.4

p.K26R

c.77A>G

1 paper

NM_001067.4

p.K25N

c.75G>T