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

1–12 of 474 variants

9 papers

NM_001067.4

p.K743N

c.2229G>T

8 papers

NM_001067.4

p.K743N

c.2229G>C

5 papers

NM_001067.4

p.D48N

c.142G>A

5 papers

NM_001067.4

p.R1435delFs

c.4303delT

4 papers

NM_001067.4

p.R568H

c.1703G>A

4 papers

NM_001067.4

p.G1386D

c.4157G>A

4 papers

NM_001067.4

p.S1483L

c.4448C>T

3 papers

NM_001067.4

p.Y50F

c.149A>T

3 papers

NM_001067.4

p.R162Q

c.485G>A

3 papers

NM_001067.4

p.Q192*

c.574C>T

3 papers

NM_001067.4

p.T215P

c.643A>C

3 papers

NM_001067.4

p.N774I

c.2321A>T