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.I1356T

c.4067T>C

Surrounding Variants

2 papers

NM_007027.4

p.L1360L

c.4078C>T

1 paper

NM_007027.4

p.R1369T

c.4106G>C

1 paper

NM_007027.4

p.M1375I

c.4125G>T

1 paper

NM_007027.4

p.M1375I

c.4125G>C

1 paper

NM_007027.4

p.M1375I

c.4125G>A

1 paper

NM_007027.4

p.R1378K

c.4133G>A

1 paper

NM_007027.4

p.I1381fs

c.4141_4142fs

1 paper

NM_007027.4

p.Q1345_E1346Splc

c.4035+70A>G

1 paper

NM_007027.4

p.Q1345_E1346Splc

c.4035+3G>A

1 paper

NM_007027.4

p.R1331C

c.3991C>T

1 paper

NM_007027.4

p.L1319F

c.3957A>T

1 paper

NM_007027.4

p.L1319F

c.3957A>C