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

3 papers

NM_001067.4

p.K1459E

c.4375A>G

Surrounding Variants

1 paper

NM_001067.4

p.P1457H

c.4370C>A

1 paper

NM_001067.4

p.P1457S

c.4369C>T

1 paper

NM_001067.4

p.K1461N

c.4383G>T

1 paper

NM_001067.4

p.K1461N

c.4383G>C

1 paper

NM_001067.4

p.D1456N

c.4366G>A

1 paper

NM_001067.4

p.K1454E

c.4360A>G

2 papers

NM_001067.4

p.S1452A

c.4354T>G

1 paper

NM_001067.4

p.S1449C

c.4346C>G

2 papers

NM_001067.4

p.S1469A

c.4405T>G

1 paper

NM_001067.4

p.S1449A

c.4345T>G

1 paper

NM_001067.4

p.T1470fs

c.4408_4409fs

2 papers

NM_001067.4

p.T1470I

c.4409C>T