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.K182E

c.544A>G

Surrounding Variants

1 paper

NM_007027.4

p.T188A

c.562A>G

1 paper

NM_007027.4

p.D189insFs

c.566_567insA

1 paper

NM_007027.4

p.F200del1

c.598_599delAAA

3 papers

NM_007027.4

p.L201H

c.602T>A

1 paper

NM_007027.4

p.C211_L213del0

c.631_639del9

1 paper

NM_007027.4

p.L221I

c.661C>A

1 paper

NM_007027.4

p.H240Q

c.720C>G

1 paper

NM_007027.4

p.H240Q

c.720C>A

1 paper

NM_007027.4

p.W171R

c.511T>C

1 paper

NM_007027.4

p.W171R

c.511T>A

1 paper

NM_007027.4

p.K163R

c.488A>G

1 paper

NM_007027.4

p.Y156fs

c.466_467fs