Varaico: Literature-Extracted Genetic Variants

Gene:TOP2B
Variant:p.H519H

TOP2B

110 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 99–245UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase
DNA_gyraseBaa 287–451UCSCDNA gyrase B
Toprimaa 477–595UCSCToprim domain
TOPRIM_Caa 594–732UCSCC-terminal associated domain of TOPRIM
DNA_topoisoIVaa 734–1190UCSCDNA gyrase/topoisomerase IV, subunit A
DTHCTaa 1508–1610UCSCDTHCT (NUC029) region

Gene Aliases

HGNC Name

DNA topoisomerase II beta

HGNC Alias Symbols

top2beta; TOPIIB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330700.2
p.H519H
c.1557T>C
Surrounding Variants
2 papers
NM_001068.3
p.A485P
c.1453G>C
2 papers
NM_001068.3
p.S483L
c.1448C>T
NM_001330700.2
p.S488L
c.1463C>T
1 paper
NM_001068.3
p.D479delFs
c.1435_1436delTC
1 paper
NM_001330700.2
p.E475D
c.1425G>T
1 paper
NM_001330700.2
p.E475D
c.1425G>C
2 papers
NM_001068.3
p.G465G
c.1395T>A
NM_001330700.2
p.G470G
c.1410T>A
2 papers
NM_001330700.2
p.G470D
c.1409G>A
NM_001068.3
p.G465D
c.1394G>A
2 papers
NM_001330700.2
p.R553H
c.1658G>A
1 paper
NM_001330700.2
p.K461delFs
c.1382_1383delTT
1 paper
NM_001330700.2
p.K461R
c.1382A>G
1 paper
NM_001330700.2
p.K457R
c.1370A>G
1 paper
NM_001068.3
p.C443S
c.1327T>A
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