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.K825R

c.2474A>G

Surrounding Variants

1 paper

NM_007027.4

p.K825Q

c.2473A>C

1 paper

NM_007027.4

p.H819H

c.2457C>T

1 paper

NM_007027.4

p.H819P

c.2456A>C

6 papers

NM_007027.4

p.S817L

c.2450C>T

1 paper

NM_007027.4

p.K834R

c.2501A>G

1 paper

NM_007027.4

p.S836C

c.2507C>G

1 paper

NM_007027.4

p.Q813*

c.2437C>T

1 paper

NM_007027.4

p.D838A

c.2513A>C

1 paper

NM_007027.4

p.V839A

c.2516T>C

1 paper

NM_007027.4

p.K840K

c.2520G>A

2 papers

NM_007027.4

p.Q801R

c.2402A>G

1 paper

NM_007027.4

p.Q797*

c.2389C>T