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.S335C

c.1003A>T

Surrounding Variants

1 paper

NM_007027.4

p.L337P

c.1010T>C

3 papers

NM_007027.4

p.S328A

c.982T>G

1 paper

NM_007027.4

p.S326C

c.976A>T

1 paper

NM_007027.4

p.E345K

c.1033G>A

1 paper

NM_007027.4

p.V325I

c.973G>A

1 paper

NM_007027.4

p.C324C

c.972C>T

1 paper

NM_007027.4

p.L347P

c.1040T>C

1 paper

NM_007027.4

p.F352L

c.1054T>C

1 paper

NM_007027.4

p.I317M

c.951T>G

1 paper

NM_007027.4

p.F352L

c.1056T>G

1 paper

NM_007027.4

p.F352L

c.1056T>A

13 papers

NM_007027.4

p.R309C

c.925C>T