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

4 papers

NM_007027.4

p.S1273A

c.3817T>G

Surrounding Variants

1 paper

NM_007027.4

p.S1273_S1274del1

c.3819_3821delGAT

1 paper

NM_007027.4

p.S1274del1

c.3820_3821delAGA

1 paper

NM_007027.4

p.R1280H

c.3839G>A

1 paper

NM_007027.4

p.L1290V

c.3868C>G

1 paper

NM_007027.4

p.L1290L

c.3870A>G

1 paper

NM_007027.4

p.K1253R

c.3758A>G

1 paper

NM_007027.4

p.K1253Q

c.3757A>C

1 paper

NM_007027.4

p.A1242T

c.3724G>A

1 paper

NM_007027.4

p.L1241H

c.3722T>A

1 paper

NM_007027.4

p.S1236C

c.3706A>T

1 paper

NM_007027.4

p.Q1233H

c.3699A>T

1 paper

NM_007027.4

p.Q1233H

c.3699A>C