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

1–12 of 266 variants

13 papers

NM_007027.4

p.R309C

c.925C>T

11 papers

NM_007027.4

p.N1042S

c.3125A>G

7 papers

NM_007027.4

p.K457Q

c.1369A>C

7 papers

NM_007027.4

p.W1145R

c.3433T>C

7 papers

NM_007027.4

p.W1145R

c.3433T>A

6 papers

NM_007027.4

p.S817L

c.2450C>T

5 papers

NM_007027.4

p.V66I

c.196G>A

5 papers

NM_007027.4

p.K155E

c.463A>G

4 papers

NM_007027.4

p.S1273A

c.3817T>G

4 papers

NM_007027.4

p.R1314Q

c.3941G>A

3 papers

NM_007027.4

p.V143A

c.428T>C

3 papers

NM_007027.4

p.L201H

c.602T>A