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.G164V

c.491G>T

Surrounding Variants

1 paper

NM_001067.4

p.Y165S

c.494A>C

3 papers

NM_001067.4

p.R162Q

c.485G>A

1 paper

NM_001067.4

p.G166E

c.497G>A

1 paper

NM_001067.4

p.R162*

c.484C>T

1 paper

NM_001067.4

p.K168E

c.502A>G

1 paper

NM_001067.4

p.L169F

c.507G>T

1 paper

NM_001067.4

p.L169F

c.507G>C

1 paper

NM_001067.4

p.S174N

c.521G>A

1 paper

NM_001067.4

p.A182T

c.544G>A

3 papers

NM_001067.4

p.Q192*

c.574C>T

1 paper

NM_001067.4

p.G160Splc

c.478+5A>G

1 paper

NM_001067.4

p.K156N

c.468G>T