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.P771delins

c.2311_2312delinsTT

Surrounding Variants

1 paper

NM_001141980.3

p.I763delFs

c.2288delA

1 paper

NM_001141980.3

p.S760I

c.2279G>T

1 paper

NM_001141980.3

p.E757V

c.2270A>T

1 paper

NM_001141980.3

p.S787L

c.2360C>T

2 papers

NM_001141980.3

p.D788N

c.2362G>A

1 paper

NM_001141980.3

p.W751*

c.2252G>A

1 paper

NM_001141980.3

p.W792*

c.2375G>A

1 paper

NM_001141980.3

p.W792*

c.2376G>A

1 paper

NM_001141980.3

p.D794ins2

c.2381_2382ins6

1 paper

NM_001141980.3

p.A796S

c.2386G>T

1 paper

NM_001141980.3

p.P797S

c.2389C>T

1 paper

NM_001141980.3

p.D794_A796del3

c.2380_2387del9