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.V1482D

c.4445T>A

Surrounding Variants

4 papers

NM_001067.4

p.S1483L

c.4448C>T

1 paper

NM_001067.4

p.T1487A

c.4459A>G

2 papers

NM_001067.4

p.S1488I

c.4463G>T

2 papers

NM_001067.4

p.S1476A

c.4426T>G

1 paper

NM_001067.4

p.K1489E

c.4465A>G

2 papers

NM_001067.4

p.S1474A

c.4420T>G

1 paper

NM_001067.4

p.D1473Y

c.4417G>T

1 paper

NM_001067.4

p.S1471F

c.4412C>T

2 papers

NM_001067.4

p.S1471A

c.4411T>G

2 papers

NM_001067.4

p.T1470I

c.4409C>T

1 paper

NM_001067.4

p.T1470fs

c.4408_4409fs

2 papers

NM_001067.4

p.S1469A

c.4405T>G