Varaico: Literature-Extracted Genetic Variants

Gene:TOP2A
Variant:p.L784L

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.L784L
c.2352G>A
Surrounding Variants
1 paper
NM_001067.4
p.P786H
c.2357C>A
2 papers
NM_001067.4
p.L781I
c.2341C>A
1 paper
NM_001067.4
p.N780K
c.2340T>G
1 paper
NM_001067.4
p.N780K
c.2340T>A
2 papers
NM_001067.4
p.Q789*
c.2365C>T
1 paper
NM_001067.4
p.T792P
c.2374A>C
3 papers
NM_001067.4
p.N774I
c.2321A>T
1 paper
NM_001067.4
p.S800A
c.2398T>G
1 paper
NM_001067.4
p.I769V
c.2305A>G
1 paper
NM_001067.4
p.S802R
c.2404A>C
1 paper
NM_001067.4
p.S802R
c.2406T>G
1 paper
NM_001067.4
p.S802R
c.2406T>A
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