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.S230N

c.689G>A

Surrounding Variants

1 paper

NM_001067.4

p.L231P

c.692T>C

1 paper

NM_001067.4

p.D222N

c.664G>A

3 papers

NM_001067.4

p.T215P

c.643A>C

1 paper

NM_001067.4

p.A247T

c.739G>A

1 paper

NM_001067.4

p.D213G

c.638A>G

1 paper

NM_001067.4

p.G211_E212insFs

c.633_634ins8

1 paper

NM_001067.4

p.S249C

c.746C>G

1 paper

NM_001067.4

p.N210fs

c.628_629fs

1 paper

NM_001067.4

p.S249_T250del0

c.745_750del6

1 paper

NM_001067.4

p.S249_K251del0

c.746_751del6

1 paper

NM_001067.4

p.D252Y

c.754G>T

1 paper

NM_001067.4

p.N260T

c.779A>C