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

3 papers

NM_001141980.3

p.Q578L

c.1733A>T

Surrounding Variants

1 paper

NM_001141980.3

p.D579N

c.1735G>A

1 paper

NM_001141980.3

p.A577G

c.1730C>G

1 paper

NM_001141980.3

p.G580G

c.1740T>A

1 paper

NM_001141980.3

p.Q583*

c.1747C>T

2 papers

NM_001141980.3

p.Q586*

c.1756C>T

1 paper

NM_001141980.3

p.N569D

c.1705A>G

1 paper

NM_001141980.3

p.E568K

c.1702G>A

1 paper

NM_001141980.3

p.A567V

c.1700C>T

1 paper

NM_001141980.3

p.D579_N587del9

c.1735_1760del27

1 paper

NM_001141980.3

p.D589E

c.1767C>G

1 paper

NM_001141980.3

p.D589E

c.1767C>A

1 paper

NM_001141980.3

p.P566S

c.1696C>T