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.H420R

c.1259A>G

Surrounding Variants

1 paper

NM_007027.4

p.W426R

c.1276T>C

1 paper

NM_007027.4

p.W426R

c.1276T>A

1 paper

NM_007027.4

p.L427_L428insA

c.1279_1283ins3

1 paper

NM_007027.4

p.L428fs

c.1282_1283fs

1 paper

NM_007027.4

p.K433T

c.1298A>C

1 paper

NM_007027.4

p.P453A

c.1357C>G

7 papers

NM_007027.4

p.K457Q

c.1369A>C

1 paper

NM_007027.4

p.K414N

c.1242A>T

1 paper

NM_007027.4

p.K475Q

c.1423A>C

1 paper

NM_007027.4

p.K475R

c.1424A>G

1 paper

NM_007027.4

p.D403delFs

c.1209delA

1 paper

NM_007027.4

p.Q485P

c.1454A>C