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.T1021A

c.3061A>G

Surrounding Variants

1 paper

NM_007027.4

p.L1014L

c.3040C>T

2 papers

NM_007027.4

p.R1013Q

c.3038G>A

1 paper

NM_007027.4

p.A1003T

c.3007G>A

1 paper

NM_007027.4

p.T992fs

c.2974_2975fs

2 papers

NM_007027.4

p.P985S

c.2953C>T

1 paper

NM_007027.4

p.C981Y

c.2942G>A

1 paper

NM_007027.4

p.E1033K

c.3097G>A

11 papers

NM_007027.4

p.N1042S

c.3125A>G

1 paper

NM_007027.4

p.N1042K

c.3126T>G

1 paper

NM_007027.4

p.N1042K

c.3126T>A

1 paper

NM_007027.4

p.K1044fs

c.3130_3131fs

1 paper

NM_007027.4

p.P1048S

c.3142C>T