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.M135I

c.405G>T

Surrounding Variants

1 paper

NM_001067.4

p.M135I

c.405G>C

1 paper

NM_001067.4

p.M135I

c.405G>A

1 paper

NM_001067.4

p.P138delins

c.413_414delinsAA

1 paper

NM_001067.4

p.A139P

c.415G>C

1 paper

NM_001067.4

p.Q144*

c.430C>T

1 paper

NM_001067.4

p.Q144K

c.430C>A

1 paper

NM_001067.4

p.G124C

c.370G>T

1 paper

NM_001067.4

p.S148A

c.442T>G

1 paper

NM_001067.4

p.S149_N150del2

c.445_449del6

1 paper

NM_001067.4

p.S117C

c.349A>T

1 paper

NM_001067.4

p.E155V

c.464A>T

1 paper

NM_001067.4

p.K156N

c.468G>T