Varaico: Literature-Extracted Genetic Variants

TP53BP1

632 papers

RefSeq Summary

This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This prote...

Pfam Domains

53-BP1_Tudoraa 1438–1559UCSCTumour suppressor p53-binding protein-1 Tudor

BRCT_3aa 1822–1925UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

tumor protein p53 binding protein 1

HGNC Alias Symbols

53BP1; p202; TDRD30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001141980.3

p.Q529*

c.1585C>T

Surrounding Variants

1 paper

NM_001141980.3

p.S528fs

c.1582_1583fs

1 paper

NM_001141980.3

p.Y527_S528insFs

c.1581_1582ins20

1 paper

NM_001141980.3

p.Y527H

c.1579T>C

1 paper

NM_001141980.3

p.E526E

c.1578A>G

1 paper

NM_001141980.3

p.E526A

c.1577A>C

1 paper

NM_001141980.3

p.T524A

c.1570A>G

2 papers

NM_001141980.3

p.S523A

c.1567T>G

1 paper

NM_001141980.3

p.D516_M521del6

c.1546_1562del18

1 paper

NM_001141980.3

p.K519E

c.1555A>G

1 paper

NM_001141980.3

p.E543V

c.1628A>T

2 papers

NM_001141980.3

p.T514fs

c.1540_1541fs

1 paper

NM_001141980.3

p.S512Y

c.1535C>A