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.P1400delFs

c.4199delG

Surrounding Variants

1 paper

NM_001067.4

p.P1400fs

c.4198_4199fs

1 paper

NM_001067.4

p.D1401H

c.4201G>C

1 paper

NM_001067.4

p.D1401G

c.4202A>G

2 papers

NM_001067.4

p.S1392A

c.4174T>G

1 paper

NM_001067.4

p.L1390M

c.4168C>A

1 paper

NM_001067.4

p.K1412T

c.4235A>C

2 papers

NM_001067.4

p.S1387I

c.4160G>T

4 papers

NM_001067.4

p.G1386D

c.4157G>A

1 paper

NM_001067.4

p.K1422Q

c.4264A>C

1 paper

NM_001067.4

p.D1378Y

c.4132G>T

1 paper

NM_001067.4

p.D1378Splc

c.4132+4T>C

1 paper

NM_001067.4

p.D1378Y

c.4132G>T