Varaico: Literature-Extracted Genetic Variants

Gene:TOP2A
Variant:p.E1368D

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.E1368D
c.4104A>T
Surrounding Variants
1 paper
NM_001067.4
p.E1368D
c.4104A>C
1 paper
NM_001067.4
p.L1369M
c.4105C>A
1 paper
NM_001067.4
p.K1370N
c.4110A>T
1 paper
NM_001067.4
p.K1370N
c.4110A>C
1 paper
NM_001067.4
p.S1365C
c.4093A>T
2 papers
NM_001067.4
p.S1365G
c.4093A>G
1 paper
NM_001067.4
p.K1363N
c.4089A>T
1 paper
NM_001067.4
p.K1363N
c.4089A>C
1 paper
NM_001067.4
p.S1374C
c.4120A>T
2 papers
NM_001067.4
p.S1374G
c.4120A>G
1 paper
NM_001067.4
p.S1374I
c.4121G>T
1 paper
NM_001067.4
p.V1376M
c.4126G>A
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