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.V84V

c.252C>G

Surrounding Variants

1 paper

NM_007027.4

p.I85insFs

c.254_255insA

2 papers

NM_007027.4

p.F86Y

c.257T>A

1 paper

NM_007027.4

p.P81R

c.242C>G

1 paper

NM_007027.4

p.P81S

c.241C>T

1 paper

NM_007027.4

p.E98V

c.293A>T

1 paper

NM_007027.4

p.Y102F

c.305A>T

1 paper

NM_007027.4

p.V109I

c.325G>A

1 paper

NM_007027.4

p.S115_E117delFs

c.345_349del5

1 paper

NM_007027.4

p.K118E

c.352A>G

2 papers

NM_007027.4

p.K118R

c.353A>G

1 paper

NM_007027.4

p.E119K

c.355G>A

1 paper

NM_007027.4

p.V124F

c.370G>T