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

5 papers

NM_007027.4

p.V66I

c.196G>A

Surrounding Variants

1 paper

NM_007027.4

p.G65S

c.193G>A

1 paper

NM_007027.4

p.F63I

c.187T>A

1 paper

NM_007027.4

p.D61V

c.182A>T

1 paper

NM_007027.4

p.K73R

c.218A>G

1 paper

NM_007027.4

p.D54E

c.162T>G

1 paper

NM_007027.4

p.D54E

c.162T>A

1 paper

NM_007027.4

p.I50R

c.149T>G

1 paper

NM_007027.4

p.I42V

c.124A>G

1 paper

NM_007027.4

p.F33C

c.98T>G

1 paper

NM_007027.4

p.S29A

c.85T>G

1 paper

NM_007027.4

p.E28_S29Splc

c.85-14A>T

1 paper

NM_007027.4

p.P81S

c.241C>T