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.R785C

c.2353C>T

Surrounding Variants

1 paper

NM_007027.4

p.K789Q

c.2365A>C

1 paper

NM_007027.4

p.K789R

c.2366A>G

1 paper

NM_007027.4

p.T776delFs

c.2328delG

2 papers

NM_007027.4

p.V777fs

c.2329_2330fs

1 paper

NM_007027.4

p.Q797*

c.2389C>T

1 paper

NM_007027.4

p.R769C

c.2305C>T

2 papers

NM_007027.4

p.Q801R

c.2402A>G

1 paper

NM_007027.4

p.H765H

c.2295T>C

1 paper

NM_007027.4

p.Q813*

c.2437C>T

6 papers

NM_007027.4

p.S817L

c.2450C>T

1 paper

NM_007027.4

p.E751delFs

c.2251_2252delTC

1 paper

NM_007027.4

p.H819P

c.2456A>C