Varaico: Literature-Extracted Genetic Variants

TOPBP1

322 papers

RefSeq Summary

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topo...

Pfam Domains

TopBP1_BRCT0aa 9–104UCSCTopBP1, BRCT0 domain

BRCTaa 101–176UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 195–271UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 349–426UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 543–615UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 636–719UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

DNA topoisomerase II binding protein 1

HGNC Alias Symbols

KIAA0259; TOP2BP1; Dpb11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007027.4

p.Y156fs

c.466_467fs

Surrounding Variants

5 papers

NM_007027.4

p.K155E

c.463A>G

1 paper

NM_007027.4

p.K155fs

c.463_464fs

1 paper

NM_007027.4

p.K154R

c.461A>G

1 paper

NM_007027.4

p.S153R

c.459C>G

1 paper

NM_007027.4

p.S153R

c.459C>A

1 paper

NM_007027.4

p.S153R

c.457A>C

1 paper

NM_007027.4

p.K163R

c.488A>G

1 paper

NM_007027.4

p.H145D

c.433C>G

3 papers

NM_007027.4

p.V143A

c.428T>C

1 paper

NM_007027.4

p.V143insFs

c.427_428insA

1 paper

NM_007027.4

p.W171R

c.511T>C

1 paper

NM_007027.4

p.W171R

c.511T>A