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.E626*

c.1876G>T

Surrounding Variants

1 paper

NM_001067.4

p.T620fs

c.1858_1859fs

1 paper

NM_001067.4

p.S619_T620insFs

c.1855_1858dup4

1 paper

NM_001067.4

p.K632Q

c.1894A>C

1 paper

NM_001067.4

p.K632N

c.1896A>T

1 paper

NM_001067.4

p.K632N

c.1896A>C

1 paper

NM_001067.4

p.R633_H634ins8

c.1897_1901ins24

1 paper

NM_001067.4

p.R633I

c.1898G>T

1 paper

NM_001067.4

p.H634R

c.1901A>G

1 paper

NM_001067.4

p.G642D

c.1925G>A

2 papers

NM_001067.4

p.P643P

c.1929T>G

2 papers

NM_001067.4

p.A647fs

c.1939_1940fs

2 papers

NM_001067.4

p.A647_I649delFs

c.1939_1946del8