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.T1135R

c.3404C>G

Surrounding Variants

1 paper

NM_007027.4

p.S1138A

c.3412T>G

1 paper

NM_007027.4

p.R1127C

c.3379C>T

7 papers

NM_007027.4

p.W1145R

c.3433T>C

7 papers

NM_007027.4

p.W1145R

c.3433T>A

1 paper

NM_007027.4

p.Q1125P

c.3374A>C

1 paper

NM_007027.4

p.R1154*

c.3460A>T

1 paper

NM_007027.4

p.Q1174E

c.3520C>G

1 paper

NM_007027.4

p.G1203A

c.3608G>C

1 paper

NM_007027.4

p.R1206C

c.3616C>T

1 paper

NM_007027.4

p.I1215V

c.3643A>G

1 paper

NM_007027.4

p.L1219P

c.3656T>C

1 paper

NM_007027.4

p.I1223L

c.3667A>C